{"orpha":708126,"name":"DNAJB6-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708126/","orphanet_url":"https://www.orpha.net/en/disease/detail/708126","names":{"fr":{"name":"Myopathie distale associée à DNAJB6"},"de":{"name":"Distale Myopathie, DNAJB6-assoziierte"},"es":{"name":"Miopatía distal asociada a DNAJB6"},"it":{"name":"Miopatia distale correlata a DNAJB6"},"nl":{"name":"DNAJB6-gerelateerde distale myopathie"},"pt":{"name":"DNAJB6-related distal myopathy"},"pl":{"name":"Miopatia dystalna związana z DNAJB6"},"cs":{"name":"DNAJB6-related distal myopathy"}},"xrefs":[{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNAJB6","name":"DnaJ heat shock protein family (Hsp40) member B6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31955980[PMID]_35812750[PMID]","hgnc":"14888","ensembl":"ENSG00000105993","omim":"611332","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}