{"orpha":700163,"name":"SMPX-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700163/","orphanet_url":"https://www.orpha.net/en/disease/detail/700163","names":{"fr":{"name":"Myopathie distale associée à SMPX"},"de":{"name":"Myopathie, distale, SMPX-assoziierte"},"es":{"name":"Miopatía distal asociada a SMPX"},"it":{"name":"Miopatia distale correlata a SMPX"},"nl":{"name":"SMPX-gerelateerde distale myopathie"},"pt":{"name":"SMPX-related distal myopathy"},"pl":{"name":"SMPX-related distal myopathy"},"cs":{"name":"SMPX-related distal myopathy"}},"xrefs":[{"source":"OMIM","code":"301075","qualifier":"E","icd_relation":null,"validated":true},{"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":700143,"name":"X-linked distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SMPX","name":"small muscle protein X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"33974137[PMID]","hgnc":"11122","ensembl":"ENSG00000091482","omim":"300226","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}