Term Name:	Charcot-Marie-Tooth disease type 2E
Synonyms:	autosomal dominant Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth neuropathy type 2E, CMT2E
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.
Ontology:	Human Disease [DOID:0110165]   ( DOID:0110165 )