{"orpha":404538,"name":"X-linked distal hereditary motor neuropathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["X-linked dHMN","X-linked 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-404538/","orphanet_url":"https://www.orpha.net/en/disease/detail/404538","names":{"fr":{"name":"Neuropathie motrice distale héréditaire liée à l'X","synonyms":["Amyotrophie spinale distale liée à l'X","dHMN liée à l'X","dSMA liée à l'X"]},"de":{"name":"Neuropathie, distale hereditäre motorische, X-chromosomale","synonyms":["Spinale Muskelatrophie, distale, X-chromosomale","dHMN, X-chromosomal"]},"es":{"name":"Neuropatía motora distal hereditaria ligada al cromosoma X","synonyms":["dHMN ligada al cromosoma X"]},"it":{"name":"Neuropatia motoria ereditaria distale legata all'X","synonyms":["Atrofia muscolare spinale distale legata all'X","dHMN legata all'X"]},"nl":{"name":"X-gebonden distale erfelijke motorneuropathie","synonyms":["X-gebonden dHMN","X-gebonden distale spinale spieratrofie"]},"pt":{"name":"Neuropatia motora hereditária distal ligada ao cromossoma X"},"pl":{"name":"Dziedziczna dystalna neuropatia ruchowa sprzężona z chromosomem X","synonyms":["dHMN sprzężony z chromosomem X","Dystalny rdzeniowy zanik mięśni sprzężony z chromosomem X"]},"cs":{"name":"X-vázaná distální hereditární motorická neuropatie","synonyms":["X-vázaná dHMN","X-vázaná distální spinální svalová atrofie"]},"uk":{"name":"Х-зчеплена спадкова дистальна моторна нейропатія","synonyms":["Х-зчеплений dHMN","Х-зчеплена дистальна спінальна мязова атрофія"]},"zh":{"name":"X连锁远端遗传性运动神经病","synonyms":["X连锁远端脊髓性肌萎缩"]},"tr":{"name":"X'e bağlı distal kalıtsal motor nöropati","synonyms":["X'e bağlı dHMN","X'e bağlı distal spinal kas atrofisi"]}},"xrefs":[{"source":"MONDO","code":"18451","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548214","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":1145,"name":"Infantile-onset X-linked spinal muscular atrophy","type":"Disease"},{"orpha":404521,"name":"Spinal muscular atrophy with respiratory distress type 2","type":"Disease"},{"orpha":139557,"name":"X-linked distal spinal muscular atrophy type 3","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}