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Disease Ontology Browser
Leber hereditary optic neuropathy and dystonia (DOID:0111755)
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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.


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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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory