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 OPA1 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 & Copyright Notice
Send questions and comments to User Support.
last database update
09/22/2022
MGI 6.21
The Jackson Laboratory