has material basis in germline mutation in GJB1 Charcot-Marie-Tooth disease X-linked dominant 1 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9795 https://www.malacards.org/card/charcot_marie_tooth_disease_x_linked_dominant_1 GARD:0001258 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined CMTX 1 Orphanet:101075 UMLS:C0393808 CMTX DOID:0110209 MESH:C564446 Charcot-Marie-Tooth disease type X caused by mutation in GJB1 HMSN, X-linked OMIM:302800 NCIT:C129068 hereditary motor and sensory neuropathy, X-linked Charcot-Marie-Tooth neuropathy, X-linked, 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. Charcot Marie Tooth disease X-linked 1 MEDGEN:98290 CMT2 Charcot-Marie-Tooth disease X-linked dominant 1 SCTID:763455008 CMTX1 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked CMT2, formerly GJB1 Charcot-Marie-Tooth disease type X X-linked Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth neuropathy X type 1 Charcot-Marie-Tooth disease, X-linked dominant, 1 CMT1X MONDO:0010549 Charcot-Marie-Tooth disease, X-linked dominant, type 1 OMIM:302900 Charcot-Marie-Tooth disease X-linked dominant type 1 Charcot-Marie-Tooth disease, X-linked, 1 Charcot-Marie-Tooth disease type X