Charcot-Marie-Tooth disease axonal type 2C

Summary

DOID:0110182 - Charcot-Marie-Tooth disease axonal type 2C

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:606071 - hereditary motor and sensory neuropathy, type iic; hmsn2c

MIM:606071 - hereditary motor and sensory neuropathy, type iic; hmsn2c

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)