Charcot-Marie-Tooth disease axonal type 2N

Summary

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

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

: aars1

MIM:

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

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

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)