{"orpha":306753,"name":"Rare 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-306753/","orphanet_url":"https://www.orpha.net/en/disease/detail/306753","names":{"fr":{"name":"Maladie rare avec myoclonie comme manifestation majeure"},"de":{"name":"Seltene Krankheit mit Myoklonie als Hauptmerkmal"},"es":{"name":"Enfermedad rara con mioclonos como característica principal"},"it":{"name":"Malattia rara con mioclonia come segno cardinale"},"nl":{"name":"Zeldzame ziekte met myoclonus als hoofdkenmerk"},"pt":{"name":"Doença rara com mioclonia como característica principal"},"pl":{"name":"Rzadka choroba, w której mioklonus jest objawem głównym"},"cs":{"name":"Vzácná onemocnění s myoklonem jako hlavním příznakem"},"uk":{"name":"Рідкісне захворювання, основною ознакою якого є міоклонус"},"zh":{"name":"肌阵挛为主的罕见病"},"tr":{"name":"Esas klinik özelliği miyoklonus olan nadir hastalık"}},"xrefs":[{"source":"MONDO","code":"17652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306747,"name":"Rare myoclonus","classifications":[181]}],"children":[{"orpha":306756,"name":"Epilepsy and/or ataxia with myoclonus as a major feature","type":"Category"},{"orpha":1183,"name":"Opsoclonus-myoclonus syndrome","type":"Disease"},{"orpha":3452,"name":"Whipple disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}