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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

Referenced OMIM:
OMIM:607684 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E

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

Xenbase Genes : nefl

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)


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