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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:Anisocoria
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Accession:DOID:9006650 term browser browse the term
Definition:Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.
Synonyms:exact_synonym: Physiologic Anisocoria;   Pupil Diameter Unequal;   Pupillary Size Inequality
 primary_id: MESH:D015875;   RDO:0006933
For additional species annotation, visit the Alliance of Genome Resources.


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Anisocoria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anisocoria ClinVar PMID:30311386 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Anisocoria ClinVar PMID:30311386 NCBI chr 7:120,173,892...120,237,145
Ensembl chr 7:120,176,530...120,230,420
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        pupil disease 12
          Anisocoria 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            pupil disease 12
              Anisocoria 2
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.