Charcot-Marie-Tooth disease axonal type 2C (DOID:0110182)
Alliance: disease page
Synonyms: autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; hereditary motor and sensory neuropathy type IIc; HMSN2C
Alt IDs: OMIM:606071, ICD10CM:G60.0, ORDO:99937
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.