Charcot-Marie-Tooth disease axonal type 2T

Summary

DOID:0110160 - Charcot-Marie-Tooth disease axonal type 2T

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.

Synonyms: AR-CMT2T, CMT2T, Charcot-Marie-Tooth neuropathy type 2T, autosomal recessive axonal Charcot-Marie-Tooth disease type 2T,

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

: dnajb2, mme

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014866 - Charcot-Marie-Tooth disease axonal type 2T

MONDO:0014866 - Charcot-Marie-Tooth disease axonal type 2T

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 dominant disease (is_a), autosomal recessive disease (is_a)