{"orpha":708129,"name":"Autosomal recessive ACTN2-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708129/","orphanet_url":"https://www.orpha.net/en/disease/detail/708129","names":{"fr":{"name":"Myopathie distale autosomique recessive associée à ACTN2"},"de":{"name":"Distale Myopathie, ACTN2-assoziierte, autosomal-rezessive"},"es":{"name":"Miopatía distal asociada a ACTN2 autosómica recesiva"},"it":{"name":"Miopatia distale autosomica recessiva correlata ad ACTN2"},"nl":{"name":"Autosomaal recessieve ACTN2-gerelateerde distale myopathie"},"pt":{"name":"Autosomal recessive ACTN2-related distal myopathy"},"pl":{"name":"Miopatia dystalna związana z ACTN2 o dziedziczeniu autosomalnym recesywnym"},"cs":{"name":"Autosomal recessive ACTN2-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":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACTN2","name":"actinin alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38311799[PMID]","hgnc":"164","ensembl":"ENSG00000077522","omim":"102573","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}