Xenbase is undergoing scheduled maintenance Wednesday, June 14 and Thursday, June 15, 2023. Xenbase will be unavailable on those days.

Click on this message to dismiss it.
Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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 : dnajb2, mme

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014866 - Charcot-Marie-Tooth disease axonal type 2T

OMIM:
OMIM:617017 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T

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)