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DOID:0110165 - Charcot-Marie-Tooth disease type 2E
Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
Synonyms: CMT2E, Charcot-Marie-Tooth neuropathy type 2E, autosomal dominant Charcot-Marie-Tooth disease type 2E,
Echinobase Genes :
MIM:607684 - charcot-marie-tooth disease, axonal, type 2e; cmt2e |
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 2 (is_a)