{"orpha":708014,"name":"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708014/","orphanet_url":"https://www.orpha.net/en/disease/detail/708014","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-dents de naissance-abcès cutané-hyperkératose plantaire-déficience auditive"},"de":{"name":"Ektodermale Dysplasie-natale Zähne-Hautabszesse-plantare Hyperkeratose-Hörbehinderung-Syndrom"},"es":{"name":"Síndrome de displasia ectodérmica-dientes natales-abscesos cutáneos-hiperqueratosis plantar-discapacidad auditiva"},"it":{"name":"Sindrome displasia ectodermica-denti neonatali-ascessi cutanei-ipercheratosi plantare-ipoacusia"},"nl":{"name":"Ectodermale dysplasie - natale gebitselementen - huidabcessen - plantaire hyperkeratose - gehoorverlies-syndroom"},"pt":{"name":"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment"},"pl":{"name":"Zespół dyplazji ektodermalnej, wrodzonych zębów, ropni skóry, hiperkeratozy podeszwowej i niedosłuchu"},"cs":{"name":"Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome"}},"xrefs":[{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"IRF6","name":"interferon regulatory factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39902929[PMID]","hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}