Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital stationary night blindness
go back to main search page
Accession:DOID:0050534 term browser browse the term
Definition:A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)
Synonyms:exact_synonym: CRSD;   congenital essential nyctalopia;   congenital stationary night blindness, type 1;   hemeralopia-myopia
 narrow_synonym: CSNB, complete, autosomal recessive;   CSNB, incomplete, X-linked;   CSNB, incomplete, autosomal recessive;   NBM1 nyctalopia;   X-linked CSNB;   X-linked congenital stationary night blindness;   XLCSNB;   congenital stationary night blindness, complete, autosomal recessive;   congenital stationary night blindness, dominant;   congenital stationary night blindness, recessive;   myopia-night blindness
 primary_id: MESH:C536122
 alt_id: RDO:0001565
 xref: OMIM:PS310500;   ORDO:215
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital stationary night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:734671
RGD:13782370
RGD:8554872
RGD:11554173
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:8554872
RGD:11554173
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:11554173
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:8554872
RGD:11554173
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:11554173
RGD:8554872
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:8554872
RGD:11554173
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:11554173
RGD:8554872
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:11554173
RGD:8554872
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:11554173
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
RGD:11554173
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7175555
RGD:8554872
RGD:11554173
RGD:7183084
RGD:7183085
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7175555
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
congenital stationary night blindness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:7240710
RGD:8554872
congenital stationary night blindness 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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
congenital stationary night blindness 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:7240710
RGD:8554872
congenital stationary night blindness 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
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
congenital stationary night blindness 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
congenital stationary night blindness 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
RGD:7240710
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
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
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:7240710
RGD:8554872
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
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
Oguchi disease-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:7240710
RGD:8554872
Oguchi disease-2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    sensory system disease 4685
      eye and adnexa disease 2253
        eye disease 2253
          refractive error 168
            myopia 133
              congenital stationary night blindness 23
                Congenital Stationary Night Blindness 1I 1
                Congenital Stationary Night Blindness 2B 1
                Oguchi disease-1 1
                Oguchi disease-2 1
                congenital stationary night blindness 1A 1
                congenital stationary night blindness 1B 2
                congenital stationary night blindness 1C 2
                congenital stationary night blindness 1D 1
                congenital stationary night blindness 1E 2
                congenital stationary night blindness 1F 1
                congenital stationary night blindness 1G 1
                congenital stationary night blindness 1H 2
                congenital stationary night blindness 2A 1
                congenital stationary night blindness autosomal dominant 1 1
                congenital stationary night blindness autosomal dominant 2 1
                congenital stationary night blindness autosomal dominant 3 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          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 1I 1
                      Congenital Stationary Night Blindness 2B 1
                      Oguchi disease-1 1
                      Oguchi disease-2 1
                      congenital stationary night blindness 1A 1
                      congenital stationary night blindness 1B 2
                      congenital stationary night blindness 1C 2
                      congenital stationary night blindness 1D 1
                      congenital stationary night blindness 1E 2
                      congenital stationary night blindness 1F 1
                      congenital stationary night blindness 1G 1
                      congenital stationary night blindness 1H 2
                      congenital stationary night blindness 2A 1
                      congenital stationary night blindness autosomal dominant 1 1
                      congenital stationary night blindness autosomal dominant 2 1
                      congenital stationary night blindness autosomal dominant 3 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.