{"orpha":307067,"name":"Rare genetic disease 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-307067/","orphanet_url":"https://www.orpha.net/en/disease/detail/307067","names":{"fr":{"name":"Maladie génétique rare avec myoclonie comme manifestation majeure"},"de":{"name":"Seltene genetisch bedingte Krankheit mit Myoklonus als Hauptmerkmal"},"es":{"name":"Enfermedad genética rara con mioclonos como característica principal"},"it":{"name":"Malattia genetica rara con mioclonia come segno cardinale"},"nl":{"name":"Zeldzame genetische ziekte met myoclonus als hoofdkenmerk"},"pt":{"name":"Doença genética rara com mioclonia como característica principal"},"pl":{"name":"Rzadka choroba genetyczna, której głównym objawem jest mioklonus"},"cs":{"name":"Vzácná geneticky podmíněná onemocnění s myoklonem jako hlavním příznakem"},"uk":{"name":"Рідкісне генетично обумовлене захворювання, основною ознакою якого є міоклонус"},"zh":{"name":"肌阵挛为主的罕见遗传病"},"tr":{"name":"Esas klinik özelliği miyoklonus olan nadir genetik hastalık"}},"xrefs":[{"source":"MONDO","code":"17665","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":307064,"name":"Rare genetic myoclonus","classifications":[156]}],"children":[{"orpha":306756,"name":"Epilepsy and/or ataxia with myoclonus as a major feature","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}