{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant dHMN","Autosomal dominant distal spinal muscular atrophy"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-140465/","orphanet_url":"https://www.orpha.net/en/disease/detail/140465","names":{"fr":{"name":"Neuropathie motrice distale héréditaire autosomique dominante","synonyms":["Amyotrophie spinale distale autosomique dominante","dHMN autosomique dominante","dSMA autosomique dominante"]},"de":{"name":"Neuropathy, motorische, distale, hereditäre, autosomal-dominante","synonyms":["Autosomal-dominante dHMN","Spinale Muskelatrophie, distale, autosomal-dominante"]},"es":{"name":"Neuropatía motora distal hereditaria autosómica dominante","synonyms":["Atrofia muscular espinal distal autosómica dominante","dHMN autosómica dominante"]},"it":{"name":"Neuropatia motoria ereditaria distale autosomica dominante","synonyms":["Atrofia muscolare spinale distale autosomica dominante","dHMN autosomica dominante"]},"nl":{"name":"Autosomaal dominante distale erfelijke motorische neuropathie","synonyms":["Autosomaal dominante dHMN","Autosomaal dominante distale spinale musculaire atrofie","Autosomaal dominante distale spinale spieratrofie"]},"pt":{"name":"Neuropatia motora hereditária distal autossómica dominante"},"pl":{"name":"Autosomalna dominująca dystalna dziedziczna neuropatia ruchowa","synonyms":["Autosomalna dominująca dHMN","Autosomalny dominujący dystalny rdzeniowy zanik mięśni"]},"cs":{"name":"Autozomálně dominantní distální hereditární motorická neuropatie","synonyms":["Autozomálně dominantní dHMN","Autozomálně dominantní distální spinální svalová atrofie"]},"uk":{"name":"Автосомно-домінантна дистальна спадкова моторна нейропатія","synonyms":["Аутосомно-домінантний dHMN","Аутосомно-домінантна дистальна спінальна мязова атрофія"]},"zh":{"name":"常染色体显性遗传远端型遗传运动神经病","synonyms":["常染色体显性遗传远端脊髓性肌萎缩"]},"tr":{"name":"Otozomal dominant distal kalıtsal motor nöropati","synonyms":["Otozomal dominant dHMN","Otozomal dominant distal spinal kas atrofi"]}},"xrefs":[{"source":"MONDO","code":"0015362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548212","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19926","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":53739,"name":"Distal hereditary motor neuropathy","classifications":[156,181]}],"children":[{"orpha":1216,"name":"Autosomal dominant congenital benign spinal muscular atrophy","type":"Disease"},{"orpha":100998,"name":"Autosomal dominant spastic paraplegia type 17","type":"Disease"},{"orpha":139518,"name":"Distal hereditary motor neuropathy type 1","type":"Disease"},{"orpha":139525,"name":"Distal hereditary motor neuropathy type 2","type":"Disease"},{"orpha":139536,"name":"Distal hereditary motor neuropathy type 5","type":"Disease"},{"orpha":139589,"name":"Distal hereditary motor neuropathy type 7","type":"Disease"},{"orpha":476093,"name":"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome","type":"Disease"},{"orpha":397744,"name":"MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}