{"orpha":99941,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2G","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["CMT2G"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Charcot-Marie-Tooth disease type 2P","url":"https://raremap.alftech.space/d/ORPHA-99941/","orphanet_url":"https://www.orpha.net/en/disease/detail/99941","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2G","synonyms":["CMT2G"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2G","synonyms":["CMT2G"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2G"},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2G","synonyms":["CMT2G"]},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2G","synonyms":["CMT2G"]},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2G"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2G","synonyms":["CMT2G"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2G","synonyms":["CMT2G","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2G"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2G","synonyms":["CMT2G"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2G型","synonyms":["CMT2G"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2G型是轴索性Charcot-Marie-Tooth病的一种形式，是一种外周感觉运动性神经病，发病与第1到第8年的足部畸形和行走困难有关，中位数在第2年。虚弱和感觉丧失主要涉及腿部和脚踝肌腱反射减弱。这种疾病有一个缓慢发展的过程。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2G","synonyms":["CMT2G"]}},"xrefs":[{"source":"UMLS","code":"C1837805","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":300319,"name":"Charcot-Marie-Tooth disease type 2P"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}