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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 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          Dyskinesias 2091
            dystonia 423
              focal dystonia 10
                oculogyric crisis 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            movement disease 2451
              Dyskinesias 2091
                dystonia 423
                  focal dystonia 10
                    oculogyric crisis 1
paths to the root