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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: Charcot-Marie-Tooth neuropathy type 4E, CMT4E, Neuropathy, congenital hypomyelinating, 1, autosomal recessive congenital hypomyelinating or amyelinating neuropathy
Echinobase Genes
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| MIM:605253 - neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive; chn |
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)