{"orpha":248,"name":"Autosomal recessive hypohidrotic ectodermal dysplasia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AR-HED"],"definition":null,"note":"This disease is described under Hypohidrotic ectodermal dysplasia","url":"https://raremap.alftech.space/d/ORPHA-248/","orphanet_url":"https://www.orpha.net/en/disease/detail/248","names":{"fr":{"name":"Dysplasie ectodermique hypohidrotique autosomique récessive","synonyms":["AR-HED","DEH-AR"]},"de":{"name":"Dysplasie, ektodermale hypohidrotische, autosomal-rezessive","synonyms":["AR-HED"]},"es":{"name":"Displasia ectodérmica hipohidrótica autosómica recesiva","synonyms":["DEH-AR"]},"it":{"name":"Displasia ectodermica ipoidrotica autosomica recessiva","synonyms":["AR-HED","Displasia ectodermica anidrotica autosomica recessiva"]},"nl":{"name":"Autosomaal recessieve hypohidrotische ectodermale dysplasie","synonyms":["AR-HED"]},"pt":{"name":"Displasia ectodérmica hipohidrótica autossómica recessiva","synonyms":["AR-HED"]},"pl":{"name":"Autosomalna recesywna hipohydrotyczna dysplazja ektodermalna","synonyms":["AR-HED","Autosomalna recesywna anhydrotyczna dysplazja ektodermalna"]},"cs":{"name":"Autozomálně recesivní hypohidrotická ektodermální dysplázie","synonyms":["AR-HED","Autozomálně recesivní anhidrotická ektodermální dysplázie"]},"uk":{"name":"Аутосомно-рецесивна гіпогідротична ектодермальна дисплазія","synonyms":["AR-HED","Аутосомно-рецесивна ангідротична ектодермальна дисплазія"]},"zh":{"name":"常染色体隐性遗传少汗性外胚层发育不良","synonyms":["常染色体隐性遗传无汗性外胚层发育不良"]},"tr":{"name":"Otozomal resesif hipohidrotik ektodermal displazi","synonyms":["AR-HED","Otozomal Çekinik anhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"224900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618535","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"7083042"},{"source":"MONDO","code":"0016619","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":238468,"name":"Hypohidrotic ectodermal dysplasia","classifications":[147,156,187,189,197]}],"children":[],"genes":[{"symbol":"CSTB","name":"cystatin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30425301[PMID]","hgnc":"2482","ensembl":"ENSG00000160213","omim":"601145","loci":["21q22.3"]},{"symbol":"EDAR","name":"ectodysplasin A receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2895","ensembl":"ENSG00000135960","omim":"604095","loci":["2q13"]},{"symbol":"EDARADD","name":"EDAR associated via death domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14341","ensembl":"ENSG00000186197","omim":"606603","loci":["1q42.3-q43"]},{"symbol":"WNT10A","name":"Wnt family member 10A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"13829","ensembl":"ENSG00000135925","omim":"606268","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null}]}}