|
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:0011527 - Charcot-Marie-Tooth disease type 4E |
Other Model Organisms: AGR, 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)