Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110182 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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