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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 1F
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Accession:DOID:0110864 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: CSNB1F;   congenital stationary night blindness 1F autosomal recessive;   congenital stationary night blindness, type 1F
 primary_id: OMIM:615058
 alt_id: RDO:9000619
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congenital stationary night blindness 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:7240710
RGD:8554872

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
                congenital stationary night blindness 1F 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
                      congenital stationary night blindness 1F 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.