| Metadata | |
|---|---|
| ID | DOID:0110182 |
| Name | Charcot-Marie-Tooth disease axonal type 2C |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/20037588 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal cominant axonal Charcot-Marie-Tooth disease type 2C [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2C [EXACT] Charcot-Marie-Tooth neuropathy type 2C [EXACT] CMT2C [EXACT] hereditary motor and sensory neuropathy type IIc [EXACT] HMSN2C [EXACT] |
| Parent Relationships |