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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

Referenced OMIM:
OMIM:605253 - NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : egr2, mpz

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)


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