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DO Term : Leber hereditary optic neuropathy and dystonia [DOID:0111755] Disease Ontology

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disease_ontology

Obsolete

false

description

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.

synonyms:
Leber optic atrophy and dystonia,
500001,
Leber optic atrophy with dystonia,
OMIM:500001,
Marsden syndrome,
familial dystonia with visual failure and striatal lucencies,
LDYT

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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