{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CMD due to dystroglycanopathy"],"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-370953/","orphanet_url":"https://www.orpha.net/en/disease/detail/370953","names":{"fr":{"name":"Dystrophie musculaire congénitale due à une dystroglycanopathie","synonyms":["CMD due à une dystroglycanopathie","DMC due à une dystroglycanopathie"]},"de":{"name":"Kongenitale Muskeldystrophie durch Dystroglykanopathie","synonyms":["CMD durch Dystroglykanopathie"]},"es":{"name":"Distrofia muscular congénita por una distroglicanopatía","synonyms":["CMD por una distroglicanopatía"]},"it":{"name":"Distrofia muscolare congenita da distroglicanopatia","synonyms":["CMD da distroglicanopatia"]},"nl":{"name":"Congenitale spierdystrofie door dystroglycanopathie","synonyms":["CMD door dystroglycanopathie"]},"pt":{"name":"Distrofia muscular congénita por distroglicanopatia"},"pl":{"name":"Wrodzona dystrofia mięśniowa z powodu dystroglikanopatii","synonyms":["CMD z powodu dystroglikanopatii"]},"cs":{"name":"Vrozená svalová dystrofie způsobená dystroglykanopatií","synonyms":["CMD způsobená dystroglykanopatií"]},"uk":{"name":"Вроджена мязова дистрофія, зумовлена дистрогліканопатією","synonyms":["ВМД через дистрогліанопатію"]},"zh":{"name":"营养不良性糖病所致先天性肌营养不良","synonyms":["抗肌萎缩相关糖蛋白病所致CMD"]},"tr":{"name":"Distroglikanopatiye bağlı doğumsal kas distrofisi","synonyms":["Distroglikanopatiye bağlı CMD"]}},"xrefs":[{"source":"MONDO","code":"18276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":52428,"name":"Congenital muscular dystrophy type 1C","status":"inactive"},{"type":"Moved to","orpha":98894,"name":"Congenital muscular dystrophy type 1D","status":"inactive"},{"type":"Referred to","orpha":329206,"name":"OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome","status":"inactive"},{"type":"Referred to","orpha":363629,"name":"OBSOLETE: GMPPB-related congenital muscular dystrophy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]}],"children":[{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","type":"Clinical group"},{"orpha":370959,"name":"Congenital muscular dystrophy with cerebellar involvement","type":"Disease"},{"orpha":370968,"name":"Congenital muscular dystrophy with intellectual disability","type":"Disease"},{"orpha":329178,"name":"Congenital muscular dystrophy with intellectual disability and severe epilepsy","type":"Disease"},{"orpha":370980,"name":"Congenital muscular dystrophy without intellectual disability","type":"Disease"},{"orpha":263494,"name":"DPM3-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}