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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:bradyopsia
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Accession:DOID:0050335 term browser browse the term
Definition:A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)
Synonyms:exact_synonym: PERRS;   prolonged electroretinal response suppression
 primary_id: MESH:C564243
 xref: GARD:12299;   OMIM:PS608415;   ORDO:75374


show annotations for term's descendants           Sort by:
bradyopsia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9 regulator of G-protein signaling 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bradyopsia		 CTD
ClinVar		 PMID:11262419 PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 More... NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892 		JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Bradyopsia ClinVar PMID:14702087 PMID:25741868 PMID:28492532 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151 		JBrowse link
bradyopsia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9 regulator of G-protein signaling 9 ISO OMIM NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892 		JBrowse link
bradyopsia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 OMIM
ClinVar		 PMID:17698770 PMID:19818506 PMID:25741868 PMID:28492532 PMID:31144483 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        retinal disease 1223
          bradyopsia 2
            bradyopsia 1 1
            bradyopsia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                bradyopsia 2
                  bradyopsia 1 1
                  bradyopsia 2 1
paths to the root