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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:Oguchi disease-2
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Accession:DOID:0110713 term browser browse the term
Definition:A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)
Synonyms:exact_synonym: CSNBO2;   congenital stationary night blindness Oguchi type 2
 primary_id: OMIM:613411
 alt_id: RDO:9003139
For additional species annotation, visit the Alliance of Genome Resources.


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Oguchi disease-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Oguchi disease 2 ClinVar
OMIM
PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 PMID:19753316 PMID:22959359 PMID:26349155 PMID:27511724 PMID:28418496 PMID:28511019 PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease 2 ClinVar PMID:9452120 PMID:22419846 PMID:25741868 PMID:28492532 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital stationary night blindness 25
        Oguchi disease-2 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Vision Disorders 159
              night blindness 32
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    Oguchi disease-2 2
paths to the root