{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98095/","orphanet_url":"https://www.orpha.net/en/disease/detail/98095","names":{"fr":{"name":"Ataxie cérébelleuse congénitale autosomique récessive"},"de":{"name":"Ataxie, zerebelläre, autosomal-rezessive, kongenitale"},"es":{"name":"Ataxia cerebelosa congénita autosómica recesiva"},"it":{"name":"Atassia cerebellare congenita, autosomica recessiva"},"nl":{"name":"Autosomaal recessieve congenitale cerebellaire ataxie"},"pt":{"name":"Ataxia cerebelosa congénita autossómica recessiva"},"pl":{"name":"Autosomalna recesywna wrodzona ataksja możdżkowa"},"cs":{"name":"Autozomálně recesivní vrozené cerebelární ataxie"},"uk":{"name":"Аутосомно-рецесивна вроджена мозочкова атаксія"},"zh":{"name":"常染色体隐性遗传先天性小脑共济失调"},"tr":{"name":"Otozomal resesif doğumsal serebellar ataksi"}},"xrefs":[{"source":"MONDO","code":"0020043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681519","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]}],"children":[{"orpha":453521,"name":"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","type":"Disease"},{"orpha":1170,"name":"Autosomal recessive cerebelloparenchymal disorder type 3","type":"Disease"},{"orpha":83472,"name":"CAMOS syndrome","type":"Malformation syndrome"},{"orpha":94122,"name":"Cerebellar ataxia, Cayman type","type":"Disease"},{"orpha":512260,"name":"Congenital cerebellar ataxia due to RNU12 mutation","type":"Disease"},{"orpha":1766,"name":"Dysequilibrium syndrome","type":"Disease"},{"orpha":140874,"name":"Joubert syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}