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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 GARS1 gene.

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

Xenbase Genes : gars1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011091 - Charcot-Marie-Tooth disease type 2D

MIM:
MIM:601472 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D

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)