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Summary Literature (0)
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: 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,

Echinobase Genes :

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)