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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Leber hereditary optic neuropathy and dystonia
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Accession:DOID:0111755 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Dystonia, familial, with visual failure and striatal lucencies;   LDYT;   Leber Hereditary Optic Neuropathy With Dystonia;   Leber optic atrophy with dystonia;   Marsden Syndrome
 primary_id: MESH:C536024
 alt_id: DOID:9008398;   OMIM:500001
For additional species annotation, visit the Alliance of Genome Resources.


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Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Leber plus disease 2
        Leber hereditary optic neuropathy and dystonia 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              optic nerve disease 240
                optic atrophy 131
                  Hereditary Optic Atrophies 62
                    Leber hereditary optic neuropathy 26
                      Leber plus disease 2
                        Leber hereditary optic neuropathy and dystonia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.