About   Help   FAQ
Disease Ontology Browser
Leber hereditary optic neuropathy and dystonia (DOID:0111755)
Alliance: disease page
Synonyms: familial dystonia with visual failure and striatal lucencies; LDYT; Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; Marsden syndrome
Alt IDs: OMIM:500001
Definition: A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.


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
11/12/2024
MGI 6.24
The Jackson Laboratory