"Charcot-Marie-Tooth disease type 2E"^^ . . "Charcot-Marie-Tooth neuropathy type 2E"@en . _:vb50942616 . . "disease_ontology"^^ . . _:vb50942616 . _:vb50942616 . "DOID:0110165"^^ . "ICD10CM:G60.0"^^ . . "OMIM:607684"^^ . _:vb50942616 . "autosomal dominant Charcot-Marie-Tooth disease type 2E"@en . "CMT2E"@en . "ORDO:99939"^^ . "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."^^ . _:vb50942616 .