Charcot-Marie-Tooth disease axonal type 2C

Term ID

DOID:0110182

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. https://www.ncbi.nlm.nih.gov/pubmed/20037588

References

• ICD10CM:G60.0
• OMIM:606071
• ORDO:99937

Ontology

Human Disease   ( DOID:0110182 )