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Charcot-Marie-Tooth disease axonal type 2C
Summary
- Synonym
-
- CMT2C
- Charcot-Marie-Tooth neuropathy type 2C
- HMSN2C
- autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
- autosomal dominant Charcot-Marie-Tooth disease type 2C
- hereditary motor and sensory neuropathy type IIc
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110182
- Mondo Disease Ontology
- ORDO
- OMIM
