{"orpha":636965,"name":"Autosomal dominant myosin storage myopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MSMA"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-636965/","orphanet_url":"https://www.orpha.net/en/disease/detail/636965","names":{"fr":{"name":"Myopathie autosomale dominante avec surcharge en myosine","synonyms":["MSMA"]},"de":{"name":"Myosin-Speicher-Myopathie, autosomal-dominante","synonyms":["MSMA"]},"es":{"name":"Miopatía por almacenamiento de miosina autosómica dominante","synonyms":["MSMA"]},"it":{"name":"Miopatia autosomica dominante da accumulo di miosina","synonyms":["MSMA"]},"nl":{"name":"Autosomaal dominante myopathie met myosinestapeling","synonyms":["MSMA"]},"pt":{"name":"Miopatia de armazenamento da miosina autossómica dominante","synonyms":["MSMA"]},"pl":{"name":"Autosomalna dominująca miopatia ze spichrzaniem miozyny","synonyms":["MSMA"]},"cs":{"name":"Autozomálně dominantní myopatie s ukládáním myozinu","synonyms":["MSMA"]},"uk":{"name":"Аутосомно-домінантна міопатія з накопиченням міозину","synonyms":["MSMA"]}},"xrefs":[{"source":"OMIM","code":"608358","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848107","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":437572,"name":"OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":53698,"name":"Myosin storage myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21288719[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}