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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:hereditary night blindness
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Accession:DOID:8498 term browser browse the term
Synonyms:exact_synonym: Oguchi disease;   Oguchi's disease;   Stationary night blindness, Oguchi type;   congenital night blindness
 primary_id: MESH:C537743
 alt_id: OMIA:001876
 xref: ICD10CM:H53.63;   ICD9CM:368.61
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hereditary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oguchi disease		 CTD
ClinVar		 PMID:25741868 NCBI chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO DNA:deletion:cds:p.N309fsX321 (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oguchi disease | ClinVar Annotator: match by term: Oguchi's disease | ClinVar Annotator: match by term: Stationary night blindness, Oguchi type		 CTD
ClinVar
RGD		 PMID:7670478 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 More... RGD:734491 NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255 PMID:28041643 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		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 chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO 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:12111638 PMID:17525176 More... RGD:734671, RGD:13782370 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Cd63 CD63 antigen ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 More... NCBI chr10:128,731,577...128,748,691
Ensembl chr10:128,736,858...128,748,691 		JBrowse link
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 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238 		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 chr11:97,222,935...97,243,182
Ensembl chr11:97,222,935...97,242,903 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness		 CTD
ClinVar		 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 More... NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Lrit3 leucine-rich repeat, immunoglobulin-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 3:129,577,590...129,597,785
Ensembl chr 3:129,581,530...129,597,679 		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:25307992 PMID:28492532 PMID:31456290 NCBI chr  X:13,327,097...13,359,059
Ensembl chr  X:13,332,349...13,355,552 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide 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 chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 More... NCBI chr10:128,749,457...128,755,906
Ensembl chr10:128,749,462...128,758,757 		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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889 		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:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 More... RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr11:73,158,315...73,191,194
Ensembl chr11:73,158,214...73,191,189 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Zfp454 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 chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition
OMIM:310500		 OMIM
ClinVar
MouseDO		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:13,327,097...13,359,059
Ensembl chr  X:13,332,349...13,355,552 		JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm6 glutamate receptor, metabotropic 6 ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
OMIM:257270		 OMIM
ClinVar
MouseDO		 PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Zfp454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers 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 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 More... NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness 1D
OMIM:613830		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889 		JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr179 G protein-coupled receptor 179 ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition
OMIM:614565		 OMIM
ClinVar
MouseDO		 PMID:22325361 PMID:22325362 PMID:23714322 PMID:24033266 PMID:24222301 More... NCBI chr11:97,222,935...97,243,182
Ensembl chr11:97,222,935...97,242,903 		JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness 1F
OMIM:615058		 OMIM
ClinVar
MouseDO		 PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 NCBI chr 3:129,577,590...129,597,785
Ensembl chr 3:129,581,530...129,597,679 		JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Qualifiers 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:11095744 PMID:22190596 PMID:25741868 PMID:26472407 PMID:27624628 More... NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers 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 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664 		JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238 		JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar		 PMID:10766140 PMID:10951519 PMID:11328726 PMID:16505055 PMID:17724218 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO
IAGP		 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:300071		 OMIM
ClinVar
MouseDO		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive		 OMIM
CTD
ClinVar		 PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 More... NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive ClinVar NCBI chr19:4,189,798...4,195,740
Ensembl chr19:4,189,786...4,195,739 		JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED		 OMIM
CTD
ClinVar		 PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO
IAGP		 ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
CTD Direct Evidence: marker/mechanism
OMIM:163500		 OMIM
ClinVar
CTD
MouseDO		 PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE		 OMIM
CTD
ClinVar		 PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:26472407 More... NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
Oguchi disease-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen, retina and pineal gland (arrestin) ISO ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar		 PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22581970 More... NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
Oguchi disease-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 IAGP
ISO		 OMIM:613411
ClinVar Annotator: match by term: Oguchi disease-2		 MouseDO
ClinVar
OMIM		 PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO ClinVar Annotator: match by term: Oguchi disease-2 ClinVar PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        Hereditary Eye Diseases 1131
          hereditary night blindness 26
            congenital stationary night blindness + 26
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              Vision Disorders 198
                night blindness 29
                  hereditary night blindness 26
                    congenital stationary night blindness + 26
paths to the root