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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 2A
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Accession:DOID:0110871 term browser browse the term
Definition:A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: CSNB, incomplete, X-linked;   CSNB2;   CSNB2A;   congenital stationary night blindness 2A, X-linked;   congenital stationary night blindness type 2A;   congenital stationary night blindness, type 2
 narrow_synonym: congenital stationary night blindness type 2A, severe
 primary_id: OMIM:300071
 alt_id: RDO:0008547
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        Hereditary Eye Diseases 528
          hereditary night blindness 25
            congenital stationary night blindness 25
              congenital stationary night blindness 2A 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          eye disease 2338
            Vision Disorders 152
              night blindness 30
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 2A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.