FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Leber hereditary optic neuropathy and dystonia ID (Ontology) DOID:0111755 (Human Disease)
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.
Also Known As "familial dystonia with visual failure and striatal lucencies" ; "LDYT" ; "Leber optic atrophy and dystonia" (for all, see Synonyms field below)
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  syndrome
   |__Leber plus disease
       |__Leber hereditary optic neuropathy and dystonia
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Is a Leber plus disease
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Synonyms
  • "familial dystonia with visual failure and striatal lucencies" EXACT
    "LDYT" EXACT OMO:0003012
    "Leber optic atrophy and dystonia" EXACT
    "Leber optic atrophy with dystonia" EXACT
    "Marsden syndrome" EXACT
Secondary IDs
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MIM:500001