{"orpha":140459,"name":"Autosomal recessive 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-140459/","orphanet_url":"https://www.orpha.net/en/disease/detail/140459","names":{"fr":{"name":"Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique récessive"},"de":{"name":"Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-rezessive"},"es":{"name":"Neuropatía desmielinizante sensitivo-motora hereditaria autosómica recesiva"},"it":{"name":"Neuropatia motoria e sensoriale demielinizzante ereditaria autosomica recessiva"},"nl":{"name":"Autosomaal recessieve erfelijke demyeliniserende motorische en sensorische neuropathie"},"pt":{"name":"Neuropatia sensitiva e motora hereditária desmielinizante autossómica recessiva"},"pl":{"name":"Autosomalna recesywna dziedziczna demielinizująca neuropatia ruchowa i czuciowa"},"cs":{"name":"Autozomálně recesivní hereditární demyelinizační motorická a senzorická neuropatie"},"uk":{"name":"Аутосомно-рецесивна спадкова демієлінізуюча моторна та сенсорна нейропатія"},"zh":{"name":"常染色体隐性遗传脱髓鞘性运动和感觉神经病"},"tr":{"name":"Otozomal resesif kalıtsal demiyelinizan motor ve duyusal nöropati"}},"xrefs":[{"source":"MONDO","code":"15361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680677","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":64749,"name":"Charcot-Marie-Tooth disease type 4","type":"Clinical group"},{"orpha":90103,"name":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":48431,"name":"Congenital cataracts-facial dysmorphism-neuropathy syndrome","type":"Malformation syndrome"},{"orpha":64748,"name":"Dejerine-Sottas syndrome","type":"Disease"},{"orpha":456312,"name":"Infantile multisystem neurologic-endocrine-pancreatic disease","type":"Disease"},{"orpha":686999,"name":"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome","type":"Disease"},{"orpha":453533,"name":"Polyendocrine-polyneuropathy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}