{"orpha":206953,"name":"Muscular lipidosis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Lipid storage myopathy"],"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-206953/","orphanet_url":"https://www.orpha.net/en/disease/detail/206953","names":{"fr":{"name":"Lipidose musculaire","synonyms":["Myopathie avec anomalie du métabolisme des lipides","Myopathie avec surcharge en lipide"]},"de":{"name":"Lipidose, muskuläre","synonyms":["Lipidspeichermyopathie"]},"es":{"name":"Lipidosis muscular","synonyms":["Miopatía por depósito de lípidos"]},"it":{"name":"Lipidosi muscolare","synonyms":["Miopatia da accumulo di lipidi"]},"nl":{"name":"Musculaire lipidose","synonyms":["Myopathie door lipidenstapeling"]},"pt":{"name":"Lipidose muscular"},"pl":{"name":"Tłuszczakowatość mięśniowa","synonyms":["Miopatia spichrzania tłuszczy"]},"cs":{"name":"Svalová lipidóza","synonyms":["Myopatie se střádáním lipidů"]},"uk":{"name":"Мязовий ліпідоз","synonyms":["Міопатія накопичення ліпідів"]},"zh":{"name":"肌脂肪沉积","synonyms":["脂肪贮积肌病"]},"tr":{"name":"Kas yağlanması","synonyms":["Lipid depolama miyopatisi"]}},"xrefs":[{"source":"MONDO","code":"16117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410214","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98486,"name":"Metabolic myopathy","classifications":[156,181]}],"children":[{"orpha":99846,"name":"Autosomal dominant myoglobinuria","type":"Disease"},{"orpha":157,"name":"Carnitine palmitoyltransferase II deficiency","type":"Disease"},{"orpha":99845,"name":"Genetic recurrent myoglobinuria","type":"Disease"},{"orpha":26791,"name":"Multiple acyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":2596,"name":"Myopathy and diabetes mellitus","type":"Disease"},{"orpha":165,"name":"Neutral lipid storage disease","type":"Clinical group"},{"orpha":26792,"name":"Short chain acyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":158,"name":"Systemic primary carnitine deficiency","type":"Disease"},{"orpha":26793,"name":"Very long chain acyl-CoA dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}