{"orpha":636970,"name":"Autosomal recessive myosin storage myopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MSMB"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-636970/","orphanet_url":"https://www.orpha.net/en/disease/detail/636970","names":{"fr":{"name":"Myopathie autosomale récessive avec surcharge en myosine","synonyms":["MSMB"]},"de":{"name":"Myosin-Speicher-Myopathie, autosomal-rezessive","synonyms":["MSMB"]},"es":{"name":"Miopatía por almacenamiento de miosina autosómica recesiva","synonyms":["MSMB"]},"it":{"name":"Miopatia autosomica recessiva da accumulo di miosina","synonyms":["MSMB"]},"nl":{"name":"Autosomaal recessieve myopathie met myosinestapeling","synonyms":["MSMB"]},"pt":{"name":"Miopatia de armazenamento da miosina autossómica recessiva","synonyms":["MSMB"]},"pl":{"name":"Autosomalna recesywna miopatia ze spichrzaniem miozyny","synonyms":["MSMB"]},"cs":{"name":"Autozomálně recesivní myopatie s ukládáním myozinu","synonyms":["MSMB"]},"uk":{"name":"Аутосомно-рецесивна міопатія з накопиченням міозину","synonyms":["MSMB"]}},"xrefs":[{"source":"OMIM","code":"255160","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":"0009708","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"17372140[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}