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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.


show annotations for term's descendants           Sort by:
 
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 polypeptide 3 ISO ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 9:55,010,117...55,026,562
Ensembl chr 9:55,010,111...55,026,562
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    sensory system disease 5054
      eye disease 2650
        pupil disease 11
          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 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        sensory system disease 5054
          eye disease 2650
            pupil disease 11
              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.