{"orpha":700188,"name":"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mild calf-predominant myopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700188/","orphanet_url":"https://www.orpha.net/en/disease/detail/700188","names":{"fr":{"name":"Myopathie distale à faiblesse prédominante du mollet-atrophie du gastrocnémien médial"},"de":{"name":"Wadenmuskelschwäche mit Musculus gastrocnemius-Atrophie und distaler Myopathie","synonyms":["Vorwiegend in den Waden auftretende Myopathie"]},"es":{"name":"Miopatía distal con debilidad predominante en pantorrilla-atrofia del gastrocnemio medial","synonyms":["Miopatía leve predominante en pantorrilla"]},"it":{"name":"Debolezza a predominanza nel polpaccio-atrofia del gastrocnemio mediale-miopatia distale","synonyms":["Lieve miopatia a predominanza nel polpaccio"]},"nl":{"name":"Zwakte van hoofdzakelijk kuit - atrofie van musculus gastrocnemius medialis - distale myopathie","synonyms":["Milde myopathie van hoofdzakelijk kuit"]},"pt":{"name":"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy"},"pl":{"name":"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy","synonyms":["Mild calf-predominant myopathy"]},"cs":{"name":"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy","synonyms":["Mild calf-predominant myopathy"]}},"xrefs":[{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30842289[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}