Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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 :

OMIM: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)