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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,

Xenbase Genes : mpz

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011903 - Charcot-Marie-Tooth disease type 2J


Other Model Organisms: Alliance, 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), autosomal dominant disease (is_a)