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Disease Ontology Browser
Charcot-Marie-Tooth disease type 2J (DOID:0110157)
Alliance: disease page
Synonyms: Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth neuropathy type 2J; CMT2J
Alt IDs: OMIM:607736, ICD10CM:G60.0, ORDO:99943
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory