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Disease Ontology Browser
dominant optic atrophy plus syndrome (DOID:0111340)
Alliance: disease page
Synonyms: DOA+; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Alt IDs: OMIM:125250, UMLS_CUI:C3276549
Definition: A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.

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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory