{"orpha":700170,"name":"DNAJB4-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700170/","orphanet_url":"https://www.orpha.net/en/disease/detail/700170","names":{"fr":{"name":"Myopathie distale associée à DNAJB4"},"de":{"name":"Myopathie, distale, DNAJB4-assoziierte"},"es":{"name":"Miopatía distal asociada a DNAJB4"},"it":{"name":"Debolezza asimmetrica del pollice e della presa della mano-miopatia distale","synonyms":["Miopatia distale correlata a DNAJB4"]},"nl":{"name":"DNAJB4-gerelateerde distale myopathie"},"pt":{"name":"Asymetric thumb-handgrip weakness-distal myopathy"},"pl":{"name":"Miopatia dystalna związana z DNAJB4"},"cs":{"name":"DNAJB4-related distal 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":"DNAJB4","name":"DnaJ heat shock protein family (Hsp40) member B4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39468638[PMID]","hgnc":"14886","ensembl":"ENSG00000162616","omim":"611327","loci":["1p31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}