{"orpha":306756,"name":"Epilepsy and/or ataxia with myoclonus 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-306756/","orphanet_url":"https://www.orpha.net/en/disease/detail/306756","names":{"fr":{"name":"Epilepsie et/ou ataxie avec myoclonie comme manifestation majeure"},"de":{"name":"Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal"},"es":{"name":"Epilepsia y/o ataxia con mioclonos como característica principal"},"it":{"name":"Epilessia e/o atassia con mioclonia come segno cardinale"},"nl":{"name":"Epilepsie en/of ataxie met myoclonus als hoofdkenmerk"},"pt":{"name":"Epilepsia e/ou ataxia com mioclonia como característica principal"},"pl":{"name":"Padaczka i(lub) ataksja, w której mioklonus jest objawem głównym"},"cs":{"name":"Epilepsie a/nebo ataxie s myoklonem jako hlavním příznakem"},"uk":{"name":"Епілепсія та/або атаксія з міоклонусом як основною ознакою"},"zh":{"name":"肌阵挛为主的癫痫和/或共济失调"},"tr":{"name":"Esas klinik özelliği miyoklonus olan epilepsi ve/veya ataksi"}},"xrefs":[{"source":"MONDO","code":"17653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306753,"name":"Rare disease with myoclonus as a major feature","classifications":[181]},{"orpha":307067,"name":"Rare genetic disease with myoclonus as a major feature","classifications":[156]}],"children":[{"orpha":306759,"name":"Non progressive epilepsy and/or ataxia with myoclonus as a major feature","type":"Category"},{"orpha":98261,"name":"Progressive myoclonic epilepsy","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}