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Echinobase
Summary Literature (0)
DOID:0110157 - Charcot-Marie-Tooth disease type 2J

Disease Ontology 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.

Synonyms: CMT2J, Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy type 2J,

Echinobase Genes :


OMIM:
MIM:607736 - charcot-marie-tooth disease, axonal, type 2j; cmt2j

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)