Summary Literature (0)

DOID:0110177 - Charcot-Marie-Tooth disease axonal type 2N

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.

Synonyms: CMT2N, Charcot-Marie-Tooth neuropathy axonal type 2N, autosomal dominant Charcot-Marie-Tooth disease type 2N, autosomal dominant axonal Charcot-Marie-Tooth disease type 2N,

Echinobase Genes : aars1


OMIM:

MIM:613287 - charcot-marie-tooth disease, axonal, type 2n; cmt2n

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

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