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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:Bilateral Striatal Necrosis with Dystonia
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Accession:DOID:9008391 term browser browse the term
Synonyms:primary_id: RDO:9000759
For additional species annotation, visit the Alliance of Genome Resources.


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Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:15576045, PMID:16337195 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      multiple system atrophy 29
        striatonigral degeneration 6
          Bilateral Striatal Necrosis with Dystonia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              multiple system atrophy 29
                striatonigral degeneration 6
                  Bilateral Striatal Necrosis with 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.