Term Name:	Charcot-Marie-Tooth disease type 2J
Synonyms:	Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy type 2J, CMT2J
Definition:	A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
Ontology:	Human Disease [DOID:0110157]   ( DOID:0110157 )