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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness autosomal dominant 1
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Accession:DOID:0110862 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: CSNBAD1;   rhodopsin-related congenital stationary night blindness
 primary_id: MESH:C566474
 alt_id: OMIM:610445;   RDO:0014818
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congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 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 dominant disease 2079
                congenital stationary night blindness autosomal dominant 1 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 autosomal dominant 1 1
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