Charcot-Marie-Tooth disease type 2R

Summary

DOID:0110161 - Charcot-Marie-Tooth disease type 2R

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.

Synonyms: CMT2R, Charcot-Marie-Tooth neuropathy type 2R, autosomal recessive axonal Charcot-Marie-Tooth disease type 2R,

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

: trim2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014208 - Charcot-Marie-Tooth disease type 2R

MONDO:0014208 - Charcot-Marie-Tooth disease type 2R

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

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

Parent(s): Charcot-Marie-Tooth disease type 2 (is_a), autosomal recessive disease (is_a)