Charcot-Marie-Tooth disease type 2D

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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

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

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)