{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","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-522506/","orphanet_url":"https://www.orpha.net/en/disease/detail/522506","names":{"fr":{"name":"Maladie génétique du tronc cérébral ou cervelet avec atteinte ophtalmique comme manifestation majeure"},"de":{"name":"Seltene genetische Krankheit des Hirnstamms oder Kleinhirns mit Augenbeteiligung als Hauptmerkmal"},"es":{"name":"Trastorno genético raro del tronco cerebral o del cerebelo con afectación oftalmológica como característica principal"},"it":{"name":"Malattia genetica rara del tronco o del cervelletto con coinvolgimento oculare quale segno maggiore"},"nl":{"name":"Zeldzame genetische aandoening van hersenstam of cerebellum met oftalmische betrokkenheid als hoofdkenmerk"},"pt":{"name":"Doença cerebelosa ou do tronco cerebral genética rara com envolvimento oftalmológico como característica principal"},"pl":{"name":"Rzadka choroba pnia mózgu lub móżdżku uwarunkowana genetycznie, w przebiegu której dominują objawy okulistyczne"},"cs":{"name":"Vzácná genetická porucha mozku nebo mozečku s očním postižením jako hlavním příznakem"},"uk":{"name":"Рідкісне генетично обумовлене захворювання стовбура головного мозку або мозочка, основною ознакою якого є офтальмологічне ураження"},"zh":{"name":"以眼球受累为主要特征的罕见遗传性脑干或小脑疾病"},"tr":{"name":"Esas klinik özelliği oftalmik tutulum olan nadir genetik beyin sapı veya serebellar bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183616,"name":"Genetic neuro-ophthalmological disease","classifications":[156]}],"children":[{"orpha":99027,"name":"Adult-onset autosomal dominant leukodystrophy","type":"Disease"},{"orpha":1168,"name":"Ataxia-oculomotor apraxia type 1","type":"Disease"},{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":233,"name":"Duane retraction syndrome","type":"Malformation syndrome"},{"orpha":529574,"name":"Duane retraction syndrome with congenital deafness","type":"Malformation syndrome"},{"orpha":95,"name":"Friedreich ataxia","type":"Disease"},{"orpha":79255,"name":"GM1 gangliosidosis type 1","type":"Clinical subtype"},{"orpha":79256,"name":"GM1 gangliosidosis type 2","type":"Clinical subtype"},{"orpha":77261,"name":"Gaucher disease type 3","type":"Clinical subtype"},{"orpha":140874,"name":"Joubert syndrome","type":"Malformation syndrome"},{"orpha":702,"name":"Pelizaeus-Merzbacher disease","type":"Disease"},{"orpha":98755,"name":"Spinocerebellar ataxia type 1","type":"Disease"},{"orpha":98756,"name":"Spinocerebellar ataxia type 2","type":"Disease"},{"orpha":64753,"name":"Spinocerebellar ataxia with axonal neuropathy type 2","type":"Disease"},{"orpha":98687,"name":"Supranuclear eye movement disorder","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}