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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 1G
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Accession:DOID:0110714 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CSNB1G;   congenital stationary night blindness type 1G
 primary_id: OMIM:616389
 alt_id: RDO:9001516
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congenital stationary night blindness 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital stationary night blindness 1G 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      congenital stationary night blindness 1G 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.