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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

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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: Congenital stationary night blindness Oguchi type 1 | ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar		 PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22581970 More... NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    physical disorder 4687
      congenital stationary night blindness 25
        Oguchi disease-1 1
Path 2
Term Annotations click to browse term
  disease 14500
    Pathological Conditions, Signs and Symptoms 11334
      Signs and Symptoms 9418
        Neurologic Manifestations 9113
          sensory system disease 6370
            eye disease 3233
              Vision Disorders 182
                night blindness 28
                  hereditary night blindness 25
                    congenital stationary night blindness 25
                      Oguchi disease-1 1
paths to the root