{"orpha":94150,"name":"Anonychia congenita totalis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Isolated congenital anonychia","url":"https://raremap.alftech.space/d/ORPHA-94150/","orphanet_url":"https://www.orpha.net/en/disease/detail/94150","names":{"fr":{"name":"Anonychie congénitale totale"},"de":{"name":"Anonychia congenita totalis"},"es":{"name":"Anoniquina congénita totalis"},"it":{"name":"Anonichia congenita totale"},"nl":{"name":"Anonychia congenita totalis"},"pt":{"name":"Anoníquia total congénita"},"pl":{"name":"Wrodzony całkowity brak paznokci"},"cs":{"name":"Anonychia congenita totalis"},"uk":{"name":"Аноніхія вроджена тотальна"},"zh":{"name":"先天性完全性无甲症"},"tr":{"name":"Anoniki konjenita totalis"}},"xrefs":[{"source":"OMIM","code":"206800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3277900","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79143,"name":"Isolated congenital anonychia","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"RSPO4","name":"R-spondin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17914448[PMID]","hgnc":"16175","ensembl":"ENSG00000101282","omim":"610573","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}