Charcot-Marie-Tooth disease type 2EE

Summary

DOID:0111559 - Charcot-Marie-Tooth disease type 2EE

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.

Synonyms: CMT2EE, Charcot-Marie-Tooth disease, axonal, type 2EE,

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

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)