{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","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-98097/","orphanet_url":"https://www.orpha.net/en/disease/detail/98097","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive due à une anomalie de réparation de l'ADN"},"de":{"name":"Zerebelläre Ataxie, autosomal-rezessive, durch DNA-Reparaturdefekt"},"es":{"name":"Ataxia cerebelosa autosómica recesiva por un defecto de reparación del ADN"},"it":{"name":"Atassia cerebellare, autosomica recessiva, da difetti nel riparo di DNA"},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie als gevolg van een DNA-hersteldefect"},"pt":{"name":"Ataxia cerebelosa autossómica recessiva por defeito na reparação do ADN"},"pl":{"name":"Autosomalna recesywna ataksja możdżkowa z powodu defektu naprawy DNA"},"cs":{"name":"Autozomálně recesivní cerebelární ataxie způsobená poruchou reparace DNA"},"uk":{"name":"Аутосомно-рецесивна мозочкова атаксія внаслідок дефекту репарації ДНК"},"zh":{"name":"DNA修复缺陷所致常染色体隐性遗传小脑共济失调"},"tr":{"name":"DNA onarım defektine bağlı otozomal resesif serebellar ataksi"}},"xrefs":[{"source":"ICD-10","code":"G11.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"UMLS","code":"C5681518","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":1168,"name":"Ataxia-oculomotor apraxia type 1","type":"Disease"},{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":251347,"name":"Ataxia-telangiectasia-like disorder","type":"Disease"},{"orpha":420741,"name":"RIDDLE syndrome","type":"Malformation syndrome"},{"orpha":94124,"name":"Spinocerebellar ataxia with axonal neuropathy type 1","type":"Disease"},{"orpha":64753,"name":"Spinocerebellar ataxia with axonal neuropathy type 2","type":"Disease"},{"orpha":910,"name":"Xeroderma pigmentosum","type":"Disease"},{"orpha":220295,"name":"Xeroderma pigmentosum-Cockayne syndrome complex","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}