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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
For additional species annotation, visit the Alliance of Genome Resources.


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:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 PMID:32581362 NCBI chr 6:49,905,851...49,927,437 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13599
    disease of anatomical entity 13257
      nervous system disease 11025
        Neurologic Manifestations 5131
          Dyskinesias 958
            dystonia 182
              focal dystonia 9
                oculogyric crisis 1
Path 2
Term Annotations click to browse term
  disease 13599
    disease of anatomical entity 13257
      nervous system disease 11025
        central nervous system disease 9647
          brain disease 9055
            movement disease 1261
              Dyskinesias 958
                dystonia 182
                  focal dystonia 9
                    oculogyric crisis 1
paths to the root