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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:abnormal pupillary function
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Accession:DOID:11518 term browser browse the term
Synonyms:exact_synonym: abnormal pupillary functions
 xref: ICD10CM:H57.09;   ICD9CM:379.49
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO OMIM NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    sensory system disease 4570
      eye disease 2394
        pupil disease 8
          abnormal pupillary function 1
            Argyll Robertson pupil 0
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        sensory system disease 4570
          eye disease 2394
            pupil disease 8
              abnormal pupillary function 1
                Argyll Robertson pupil 0
                BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 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.