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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness 1C
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Accession:DOID:0110867 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)
Synonyms:exact_synonym: CSNB, complete, autosomal recessive;   CSNB1C;   congenital stationary night blindness 1C autosomal recessive;   congenital stationary night blindness, type 1C
 primary_id: MESH:C567704
 alt_id: OMIM:613216;   RDO:0009789;   RDO:0015700
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congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd4a DENN/MADD domain containing 4A JBrowse link 9 64,806,124 64,919,667 RGD:8554872
G Mir211 microRNA 211 JBrowse link 7 64,205,806 64,205,911 RGD:8554872
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 JBrowse link 9 64,922,861 64,951,620 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 7 64,153,835 64,269,772 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13271
    sensory system disease 4782
      eye disease 2363
        Hereditary Eye Diseases 563
          hereditary night blindness 23
            congenital stationary night blindness 23
              congenital stationary night blindness 1C 4
Path 2
Term Annotations click to browse term
  disease 13271
    disease of anatomical entity 12755
      nervous system disease 10288
        sensory system disease 4782
          eye disease 2363
            Vision Disorders 152
              night blindness 29
                hereditary night blindness 23
                  congenital stationary night blindness 23
                    congenital stationary night blindness 1C 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.