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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
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Oguchi disease-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Oguchi disease-1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      Oguchi disease-1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.