{"orpha":675216,"name":"Spinocerebellar ataxia type 27B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-675216/","orphanet_url":"https://www.orpha.net/en/disease/detail/675216","names":{"fr":{"name":"Ataxie spinocérébelleuse type 27B"},"de":{"name":"Ataxie, spinozerebelläre, Typ 27B"},"es":{"name":"Ataxia espinocerebelosa tipo 27B"},"it":{"name":"Atassia spinocerebellare tipo 27B"},"nl":{"name":"Spinocerebellaire ataxie type 27B"},"pt":{"name":"Ataxia espinocerebelosa tipo 27B"},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 27B"},"cs":{"name":"Spinocerebelární ataxie, typ 27B"},"uk":{"name":"Спіноцеребеллярна атаксія, тип 27B"}},"xrefs":[{"source":"OMIM","code":"620174","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"859340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FGF14","name":"fibroblast growth factor 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36516086[PMID]","hgnc":"3671","ensembl":"ENSG00000102466","omim":"601515","loci":["13q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}