Term Name: | Charcot-Marie-Tooth disease axonal type 2C |
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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 |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. |
Ontology: | Human Disease [DOID:0110182] ( DOID:0110182 ) |