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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 1H
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Accession:DOID:0110866 term browser browse the term
Definition:An unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. (OMIM)
Synonyms:exact_synonym: CSNB1H;   congenital stationary night blindness type 1H
 primary_id: OMIM:617024
 alt_id: RDO:9001231
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congenital stationary night blindness 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                congenital stationary night blindness 1H 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      congenital stationary night blindness 1H 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.