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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:oculogyric crisis
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Accession:DOID:0050842 term browser browse the term
Definition:A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)
Synonyms:primary_id: RDO:9003198


show annotations for term's descendants           Sort by:
oculogyric crisis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          Dyskinesias 2234
            dystonia 506
              focal dystonia 13
                oculogyric crisis 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  focal dystonia 13
                    oculogyric crisis 1
paths to the root