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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 1E
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Accession:DOID:0110869 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1E;   congenital stationary night blindness 1E autosomal recessive;   congenital stationary night blindness, type 1E
 primary_id: OMIM:614565
 alt_id: RDO:9000618
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congenital stationary night blindness 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                congenital stationary night blindness 1E 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      congenital stationary night blindness 1E 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.