Summary Literature (0)

DOID:0110195 - Charcot-Marie-Tooth disease type 4E

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.

Synonyms: CMT4E, Charcot-Marie-Tooth neuropathy type 4E, Neuropathy, congenital hypomyelinating, 1, autosomal recessive congenital hypomyelinating or amyelinating neuropathy,

Echinobase Genes :


OMIM:

MIM:605253 - neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive; chn

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

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