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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-1
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Accession:DOID:0110712 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 or compound heterozygous mutation in the SAG gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CSNBO1;   congenital stationary night blindness Oguchi type 1
 primary_id: OMIM:258100
 alt_id: RDO:9003138
For additional species annotation, visit the Alliance of Genome Resources.



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Oguchi disease-1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar
PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital stationary night blindness 25
        Oguchi disease-1 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          eye disease 2937
            Vision Disorders 267
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    Oguchi disease-1 1
paths to the root