{"orpha":2228,"name":"Hypodontia-dysplasia of nails syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypodontia-nail dysgenesis syndrome","Tooth and nail syndrome","Witkop syndrome"],"definition":"Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2228/","orphanet_url":"https://www.orpha.net/en/disease/detail/2228","names":{"fr":{"name":"Syndrome d'hypodontie-dysplasie unguéale","synonyms":["Syndrome de Witkop","Syndrome dents et ongles"],"definition":"Le syndrome hypodontie - dysplasie unguéale est une forme de dysplasie ectodermique."},"de":{"name":"Hypodontie-Nageldysplasie-Syndrom","synonyms":["Syndrom der Hypodontie mit Nageldysgenesie","Witkop-Syndrom","Zahn-Nagel-Syndrom"],"definition":"Das Hypodontie-Nageldysplasie-Syndrom gehört zur Gruppe der ektodermalen Dysplasien."},"es":{"name":"Síndrome de hipodoncia-displasia ungueal","synonyms":["Síndrome de Witkop","Síndrome de dientes y uñas"],"definition":"El síndrome de hipodoncia-displasia ungueal es una forma de displasia ectodérmica."},"it":{"name":"Ipodonzia - displasia ungueale","synonyms":["Sindrome denti-unghie","Sindrome di Witkop"]},"nl":{"name":"Hypodontie - nageldysplasie-syndroom","synonyms":["Hypodontie - nageldysgenesie-syndroom","Syndroom van Witkop","Tand en nagel-syndroom"],"definition":"Hypodontie - nageldysplasie-syndroom is een vorm van ectodermale dysplasie."},"pt":{"name":"Síndrome de hipodontia-displasia das unhas","synonyms":["Síndrome Witkop","Síndrome de hipodontia-disgenesia das unhas","Síndrome dente-unha"]},"pl":{"name":"Hipodoncja - dysplazja paznokci","synonyms":["Hipodoncja - dysgenezja paznokci","Zespół Witkopa","Zespół zęba i paznokcia"]},"cs":{"name":"Syndrom zahrnující hypodoncii a dysplázii nehtů","synonyms":["Syndrom zub a nehet","Syndrom zahrnující hypodoncii a dysgenezi nehtů","Witkopův syndrom"]},"uk":{"name":"Синдром гіподонтії - дисплазії нігтів","synonyms":["Синдром гіподонтії та дисгенезії нігтів","Зубний і нігтьовий синдром","Синдром Віткопа"],"definition":"Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia."},"zh":{"name":"牙发育不全-指甲发育不良综合征","synonyms":["牙发育不全-指甲发育不良综合征"]},"tr":{"name":"Hipodonti-tırnak sendromu displazisi","synonyms":["Witkop sendromu","Diş ve tırnak sendromu","Hipodonti-tırnak disgenezi sendromu"]}},"xrefs":[{"source":"OMIM","code":"189500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"317823248"},{"source":"MONDO","code":"0008582","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406735","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"MSX1","name":"msh homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11369996[PMID]","hgnc":"7391","ensembl":"ENSG00000163132","omim":"142983","loci":["4p16.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012746","label":"Thin toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null}]}}