{"orpha":631103,"name":"Spinocerebellar ataxia type 48","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-631103/","orphanet_url":"https://www.orpha.net/en/disease/detail/631103","names":{"fr":{"name":"Ataxie spinocérébelleuse type 48"},"de":{"name":"Ataxie, spinozerebelläre, Typ 48"},"es":{"name":"Ataxia espinocerebelosa tipo 48"},"it":{"name":"Atassia spinocerebellare tipo 48"},"nl":{"name":"Spinocerebellaire ataxie type 48"},"pt":{"name":"Ataxia espinhocerebelosa tipo 48"},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 48"},"cs":{"name":"Spinocerebelární ataxie, typ 48"},"uk":{"name":"Спіноцеребеллярна атаксія, тип 48"}},"xrefs":[{"source":"OMIM","code":"618093","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816773","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":"STUB1","name":"STIP1 homology and U-box containing protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30381368[PMID]","hgnc":"11427","ensembl":"ENSG00000103266","omim":"607207","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"34070858[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34070858[PMID]_ORPHANET"}],"phenotypes":null}