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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 domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    sensory system disease 4979
      eye disease 2391
        Hereditary Eye Diseases 550
          hereditary night blindness 25
            congenital stationary night blindness 25
              congenital stationary night blindness 1C 4
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            Vision Disorders 150
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    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.