About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
02/13/2024
MGI 6.23
The Jackson Laboratory