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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital stationary night blindness
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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
 xref: OMIM:PS310500;   ORDO:215
For additional species annotation, visit the Alliance of Genome Resources.



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congenital stationary night blindness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255 PMID:28041643 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO
IAGP
ClinVar Annotator: match by term: Congenital stationary night blindness
DNA:mutation:cds: c.2941C>T (rat)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9662399 PMID:9662400 PMID:11281458 PMID:17525176 PMID:22194652 More... RGD:734671, RGD:13782370 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:18246026 RGD:13782370
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:16249515 PMID:22008250 PMID:24715752 PMID:26628857 PMID:28041643 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness
CTD
ClinVar
PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:8075643 PMID:28492532 PMID:30718709 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8358437 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:deletion, missense mutations:cds:multiple (human)
ClinVar
CTD
RGD
PMID:19878917 PMID:19896113 PMID:19966281 PMID:20300565 PMID:25741868 More... RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:22008250 PMID:24715752 PMID:26628857 PMID:28492532 PMID:30718709 NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1A OMIM
ClinVar
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B OMIM
ClinVar
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B ClinVar PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C OMIM
ClinVar
PMID:16199547 PMID:19436059 PMID:19878917 PMID:19896109 PMID:19896113 More... NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1D OMIM
ClinVar
PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1E OMIM
ClinVar
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F OMIM
ClinVar
PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1G OMIM
ClinVar
PMID:22190596 PMID:25741868 PMID:26472407 PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H OMIM
ClinVar
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar
PMID:10766140 PMID:16505055 PMID:17724218 PMID:20050595 PMID:23035049 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 OMIM
ClinVar
PMID:9529339 PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 More... NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive OMIM
ClinVar
PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive ClinVar NCBI chr 1:201,435,854...201,438,373
Ensembl chr 1:201,435,884...201,437,443
JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 OMIM
ClinVar
PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE OMIM
ClinVar
PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 OMIM
ClinVar
PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:26472407 More... NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
Oguchi disease-1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar
PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
Oguchi disease-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Oguchi disease-2 OMIM
ClinVar
PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease-2 ClinVar PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    physical disorder 4333
      congenital stationary night blindness 25
        Congenital Stationary Night Blindness 1I 1
        Congenital Stationary Night Blindness 2B 2
        Oguchi disease-1 1
        Oguchi disease-2 2
        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 1
        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 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              Vision Disorders 269
                night blindness 31
                  hereditary night blindness 25
                    congenital stationary night blindness 25
                      Congenital Stationary Night Blindness 1I 1
                      Congenital Stationary Night Blindness 2B 2
                      Oguchi disease-1 1
                      Oguchi disease-2 2
                      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 1
                      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