{"orpha":206634,"name":"Genetic skeletal muscle disease","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-206634/","orphanet_url":"https://www.orpha.net/en/disease/detail/206634","names":{"fr":{"name":"Maladie génétique du muscle squelettique"},"de":{"name":"Genetisch bedingte Krankheit der Skelettmuskeln"},"es":{"name":"Enfermedad muscular esquelética genética"},"it":{"name":"Malattia muscolo-scheletrica genetica"},"nl":{"name":"Genetische skeletspierziekte"},"pt":{"name":"Doença do músculo esquelético genética"},"pl":{"name":"Choroba mięśni szkieletowych uwarunkowana genetycznie"},"cs":{"name":"Geneticky podmíněná muskuloskeletální onemocnění"},"uk":{"name":"Генетично обумовлене захворювання скелетних мязів"},"zh":{"name":"遗传性骨肌肉病"},"tr":{"name":"Genetik iskelet kası hastalığı"}},"xrefs":[{"source":"UMLS","code":"C5680800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183497,"name":"Genetic neuromuscular disease","classifications":[156]},{"orpha":98472,"name":"Skeletal muscle disease","classifications":[181]}],"children":[{"orpha":2674,"name":"Cyprus facial-neuromusculoskeletal syndrome","type":"Malformation syndrome"},{"orpha":599,"name":"Distal myopathy","type":"Category"},{"orpha":371433,"name":"Genetic periodic paralysis","type":"Category"},{"orpha":98473,"name":"Muscular dystrophy","type":"Category"},{"orpha":206970,"name":"Myotonic syndrome","type":"Category"},{"orpha":206656,"name":"Non-dystrophic myopathy","type":"Category"},{"orpha":206976,"name":"Periodic paralysis","type":"Clinical group"},{"orpha":727296,"name":"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome","type":"Disease"},{"orpha":3292,"name":"Tel Hashomer camptodactyly syndrome","type":"Malformation syndrome"},{"orpha":88635,"name":"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates","type":"Disease"},{"orpha":3454,"name":"Wieacker-Wolff syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}