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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,

Xenbase Genes : egr2, mpz

Mondo Disease Ontology (on Monarch Initiative):
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): Charcot-Marie-Tooth disease type 4 (is_a), autosomal dominant disease (is_a), autosomal recessive disease (is_a)