{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-140453/","orphanet_url":"https://www.orpha.net/en/disease/detail/140453","names":{"fr":{"name":"Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique dominante"},"de":{"name":"Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-dominante"},"es":{"name":"Neuropatía desmielinizante sensitivo-motora hereditaria autosómica dominante"},"it":{"name":"Neuropatia motoria e sensoriale demielinizzante ereditaria autosomica dominante"},"nl":{"name":"Autosomaal dominante erfelijke demyeliniserende motorische en sensorische neuropathie"},"pt":{"name":"Neuropatia sensitiva e motora desmielinizante hereditária autossómica dominante"},"pl":{"name":"Autosomalna dominująca dziedziczna demielinizująca neuropatia ruchowa i czuciowa"},"cs":{"name":"Autozomálně dominantní hereditární demyelinizační motorická a senzorická neuropatie"},"uk":{"name":"Аутосомно-домінантна спадкова демієлінізуюча моторна та сенсорна нейропатія"},"zh":{"name":"常染色体显性遗传脱髓鞘性运动和感觉神经病"},"tr":{"name":"Otozomal dominant kalıtsal demiyelinizan motor ve duyusal nöropati"}},"xrefs":[{"source":"MONDO","code":"15359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680673","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19923","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":476116,"name":"Demyelinating hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":140481,"name":"Autosomal dominant slowed nerve conduction velocity","type":"Disease"},{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","type":"Clinical group"},{"orpha":64748,"name":"Dejerine-Sottas syndrome","type":"Disease"},{"orpha":640,"name":"Hereditary neuropathy with liability to pressure palsies","type":"Malformation syndrome"},{"orpha":280598,"name":"Hereditary sensorimotor neuropathy with hyperelastic skin","type":"Disease"},{"orpha":84093,"name":"Hereditary thermosensitive neuropathy","type":"Disease"},{"orpha":631248,"name":"Mitchell Syndrome","type":"Disease"},{"orpha":139512,"name":"Neuropathy with hearing impairment","type":"Disease"},{"orpha":476394,"name":"PMP2-related Charcot-Marie-Tooth disease type 1","type":"Disease"},{"orpha":477817,"name":"PMP22-RAI1 contiguous gene duplication syndrome","type":"Malformation syndrome"},{"orpha":3115,"name":"Roussy-Lévy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}