{"orpha":708123,"name":"Autosomal dominant distal nebulin myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708123/","orphanet_url":"https://www.orpha.net/en/disease/detail/708123","names":{"fr":{"name":"Myopathie distale autosomique dominante précoce associée à la nébuline"},"de":{"name":"Distale Nebulin-Myopathie, autosomal-dominante"},"es":{"name":"Miopatía distal asociada a nebulina autosómica dominante"},"it":{"name":"Miopatia distale autosomica dominante correlata alla nebulina"},"nl":{"name":"Autosomaal dominante distale nebulinemyopathie"},"pt":{"name":"Autosomal dominant distal nebulin myopathy"},"pl":{"name":"Dystalna miopatia nebulinowa o dziedziczeniu autosomalnym dominującym"},"cs":{"name":"Autosomal dominant distal nebulin 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]}],"children":[],"genes":[{"symbol":"NEB","name":"nebulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40091977[PMID]_30679003[PMID]","hgnc":"7720","ensembl":"ENSG00000183091","omim":"161650","loci":["2q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"11910172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11910172[PMID]_ORPHANET"}],"phenotypes":null}