{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["AR-CMT2","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2"],"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-91024/","orphanet_url":"https://www.orpha.net/en/disease/detail/91024","names":{"fr":{"name":"Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive","synonyms":["AR-CMT2","Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2"]},"de":{"name":"Autosomal-rezessive axonale hereditäre motorisch-sensorische Neuropathie","synonyms":["AR-CMT2","Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 2"]},"es":{"name":"Neuropatía axonal sensitivo-motora hereditaria autosómica recesiva","synonyms":["CMT2-AR","Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva tipo 2"]},"it":{"name":"Neuropatia sensitivo-motoria assonale ereditaria autosomica recessiva","synonyms":["AR-CMT2","Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 4C"]},"nl":{"name":"Autosomaal recessieve axonale erfelijke motorische en sensorische neuropathie","synonyms":["AR-CMT2","Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2"]},"pt":{"name":"Neuropatia sensitiva e motora hereditária axonal autossómica recessiva","synonyms":["Doença de Charcot-Marie-Tooth tipo 2 autossómica recessiva"]},"pl":{"name":"Autosomalna recesywna aksonalna dziedziczna neuropatia ruchowa i czuciowa","synonyms":["AR-CMT2","Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2"]},"cs":{"name":"Autozomálně recesivní axonální hereditární motorická a senzorická neuropatie","synonyms":["AR-CMT2","Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2","Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2"]},"uk":{"name":"Автосомно-рецесивна аксональна спадкова моторна та сенсорна нейропатія","synonyms":["AR-CMT2","Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2"]},"zh":{"name":"常染色体隐性遗传轴索遗传性运动感觉神经病","synonyms":["常染色体隐性轴突腓骨肌萎缩症2型"]},"tr":{"name":"Otozomal resesif aksonal kalıtsal motor ve duyusal nöropati","synonyms":["AR-CMT2","Otozomal Çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1038066820"},{"source":"MONDO","code":"19601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680194","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":476109,"name":"Axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":466794,"name":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","type":"Disease"},{"orpha":466775,"name":"Autosomal recessive Charcot-Marie-Tooth disease type 2X","type":"Disease"},{"orpha":101097,"name":"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness","type":"Disease"},{"orpha":521411,"name":"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect","type":"Disease"},{"orpha":324442,"name":"Autosomal recessive axonal neuropathy with neuromyotonia","type":"Disease"},{"orpha":538096,"name":"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy","type":"Disease"},{"orpha":98856,"name":"Charcot-Marie-Tooth disease type 2B1","type":"Disease"},{"orpha":101101,"name":"Charcot-Marie-Tooth disease type 2B2","type":"Disease"},{"orpha":228374,"name":"Charcot-Marie-Tooth disease type 2B5","type":"Disease"},{"orpha":101102,"name":"Charcot-Marie-Tooth disease type 2H","type":"Disease"},{"orpha":300319,"name":"Charcot-Marie-Tooth disease type 2P","type":"Disease"},{"orpha":397968,"name":"Charcot-Marie-Tooth disease type 2R","type":"Disease"},{"orpha":443073,"name":"Charcot-Marie-Tooth disease type 2S","type":"Disease"},{"orpha":495274,"name":"Charcot-Marie-Tooth disease type 2T","type":"Disease"},{"orpha":538101,"name":"Congenital axonal neuropathy with encephalopathy","type":"Disease"},{"orpha":443950,"name":"DNAJB2-related Charcot-Marie-Tooth disease type 2","type":"Disease"},{"orpha":700508,"name":"Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy","type":"Disease"},{"orpha":90120,"name":"Hereditary motor and sensory neuropathy type 6","type":"Disease"},{"orpha":90119,"name":"Hereditary motor and sensory neuropathy with acrodystrophy","type":"Disease"},{"orpha":457205,"name":"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","type":"Disease"},{"orpha":423894,"name":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","type":"Disease"},{"orpha":90118,"name":"Severe early-onset axonal neuropathy due to MFN2 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}