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Disease Ontology Browser
Charcot-Marie-Tooth disease type 2E (DOID:0110165)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth neuropathy type 2E; CMT2E
Alt IDs: OMIM:607684, ICD10CM:G60.0, ORDO:99939
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.

Disease References using Mouse Models (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory