About   Help   FAQ
Disease Ontology Browser
deafness-dystonia-optic neuronopathy syndrome (DOID:0050757)
Alliance: disease page
Synonyms: Deafness Dystonia Optic Atrophy Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome; deafness dystonia syndrome; Dystonia Deafness Syndrome; Jensen syndrome; Mohr-Tranebjaerg syndrome
Alt IDs: OMIM:304700, MESH:C535808, ORDO:3213
Definition: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.

Disease References using Mouse Models (1)
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
11/05/2024
MGI 6.24 		The Jackson Laboratory