Charcot-Marie-Tooth disease type 4E

Summary

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

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

: egr2, mpz

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011527 - Charcot-Marie-Tooth disease type 4E

MONDO:0011527 - Charcot-Marie-Tooth disease type 4E

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 4 (is_a)