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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.



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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 chr16:82,821,184...82,837,971 JBrowse link
G Sag S-antigen visual 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 9:95,915,640...95,956,641 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 subfamily A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255 PMID:28041643 NCBI chr 2:212,849,470...212,986,730 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 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:12111638 PMID:17525176 More... RGD:734671, RGD:13782370 NCBI chr  X:14,868,096...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 Cd63 Cd63 molecule ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 More... NCBI chr 7:1,909,538...1,924,937 JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:25741868 NCBI 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 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 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:82,821,184...82,837,971 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:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 More... NCBI 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 JBrowse link
G Nlrp9 NLR family, pyrin domain containing 9 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 NCBI chr 1:68,291,180...68,341,512 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: Hemeralopia-myopia | ClinVar Annotator: match by term: X-linked congenital stationary night blindness
CTD
ClinVar
PMID:17392683 PMID:23406521 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI 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 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 chr 7:1,341,172...1,346,863 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:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693 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 1:142,718,262...142,731,621 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 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:95,915,640...95,956,641 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 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 1:117,718,896...117,835,434 JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:58,382,054...58,413,657 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 chr13:102,368,783...103,035,230 JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:15781871 PMID:16622103 PMID:22008250 PMID:24715752 PMID:25741868 More... NCBI chr10:35,183,729...35,200,450 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
ISS
OMIM:310500
ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition
OMIM
MouseDO
ClinVar
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:9,280,864...9,301,900 JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers 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 1B ClinVar PMID:25741868 NCBI chr10:82,324,568...82,340,448 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: GRM6-related condition | 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 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 Annotator: match by term: GRM6-related condition ClinVar PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,183,729...35,200,450 JBrowse link
congenital stationary night blindness 1C 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 1C ClinVar PMID:25741868 NCBI chr 8:108,350,935...108,355,671 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr10:35,167,985...35,182,717 JBrowse link
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 JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:9,280,864...9,301,900 JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition
OMIM:613216
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 More... NCBI chr 1:117,718,896...117,835,434 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 member 1 ISO
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1D | ClinVar Annotator: match by term: SLC24A1-related condition
OMIM:613830
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 8:65,440,842...65,466,001 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
ISS
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 chr10:82,324,568...82,340,448 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, Ig-like and transmembrane domains 3 ISO
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition
OMIM:615058
OMIM
ClinVar
MouseDO
PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 2:218,337,215...218,360,318 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 | ClinVar Annotator: match by term: GNAT1-related condition OMIM
ClinVar
PMID:9536098 PMID:11095744 PMID:17576681 PMID:22190596 PMID:25741868 More... NCBI chr 8:108,350,935...108,355,671 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 4:159,321,203...159,325,072 JBrowse link
G Gnb3 G protein subunit 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 4:157,639,468...157,645,171 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:11115851 PMID:11328726 PMID:11709018 More... NCBI chr10:54,453,753...54,478,639 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 voltage-gated channel subunit alpha1 F ISO
ISS
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:14,868,096...14,896,413 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 ClinVar Annotator: match by term: CABP4-related condition | 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 JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive ClinVar PMID:25741868 NCBI chr 1:201,435,878...201,438,373 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
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
OMIM:610445
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 More... NCBI chr 4:148,975,597...148,988,693 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 ISO
ISS
ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2
OMIM:163500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chr14:1,323,310...1,366,450 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:65,440,842...65,466,001 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 ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:28492532 More... NCBI chr 8:108,350,935...108,355,671 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 visual arrestin ISO ClinVar Annotator: match by term: Congenital stationary night blindness Oguchi type 1 | ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar
PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22581970 More... NCBI chr 9:95,915,640...95,956,641 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 ISO
ISS
ClinVar Annotator: match by term: Oguchi disease-2
OMIM:613411
OMIM
ClinVar
MouseDO
PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chr16:82,821,184...82,837,971 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 9:95,915,640...95,956,641 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      eye disease 3722
        Hereditary Eye Diseases 1130
          hereditary night blindness 29
            congenital stationary night blindness + 29
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              Vision Disorders 199
                night blindness 32
                  hereditary night blindness 29
                    congenital stationary night blindness + 29
paths to the root