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

Xenbase Genes : dnajb2, mme

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

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

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