Summary Literature (0)

DOID:0110164 - Charcot-Marie-Tooth disease type 2D

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS).

Synonyms: CMT2D, Charcot-Marie-Tooth disease neuronal type 2D, Charcot-Marie-Tooth neuropathy type 2D, autosomal dominant Charcot-Marie-Tooth disease type 2D,

Echinobase Genes :


OMIM:

OMIM:601472 - charcot-marie-tooth disease, axonal, type 2d; cmt2d

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

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