Charcot-Marie-Tooth disease axonal type 2U

Summary

DOID:0110173 - Charcot-Marie-Tooth disease axonal type 2U

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.

Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2U, autosomal dominant Charcot-Marie-Tooth disease type 2U, Charcot-Marie-Tooth neuropathy type 2U, CMT2U

Xenbase 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

: mars1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

MIM:

MIM:616280 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U

MIM:616280 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U

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)