.
Oguchi disease-2 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Oguchi disease-2
go back to main search page
Accession:DOID:0110713 term browser browse the term
Definition:A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)
Synonyms:exact_synonym: CSNBO2;   congenital stationary night blindness Oguchi type 2
 primary_id: MIM:613411

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
Oguchi disease-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624793:453,125...462,053
Ensembl chrNW_004624793:453,125...462,053 		JBrowse link
G 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 chr 3:91,633,902...91,655,989
Ensembl chr 3:91,636,813...91,653,521 		JBrowse link
G P 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 chr11:78,793,670...78,803,291
Ensembl chr11:78,793,777...78,804,262 		JBrowse link
G S 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 chrNW_004936472:152,202...165,134
Ensembl chrNW_004936472:151,854...165,281 		JBrowse link
G D 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 chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146 		JBrowse link
G B 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 chr13:94,816,045...94,838,509
Ensembl chr13:113,867,002...113,885,610 		JBrowse link
G C 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 chrNW_004955404:343,009...353,683
Ensembl chrNW_004955404:343,009...353,683 		JBrowse link
G R 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
Ensembl chr16:76,123,842...76,135,792 		JBrowse link
G M 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 H GRK1 G protein-coupled receptor kinase 1 IAGP
ISS		 ClinVar Annotator: match by term: Oguchi disease-2
OMIM:613411		 ClinVar
MouseDO
OMIM		 PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736 		JBrowse link
G N 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 chrNW_004624843:5,837,105...5,870,417
Ensembl chrNW_004624843:5,844,823...5,870,300 		JBrowse link
G 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 chr10:119,343,562...119,383,119
Ensembl chr10:119,344,090...119,382,983 		JBrowse link
G P 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 chr15:133,704,975...133,741,844
Ensembl chr15:133,705,008...133,741,798 		JBrowse link
G S 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 chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		JBrowse link
G D 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 chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579 		JBrowse link
G B 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 chr2B:120,532,049...120,574,914
Ensembl chr2B:239,449,910...239,487,537 		JBrowse link
G C 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 chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846 		JBrowse link
G R 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
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
G M 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
G H SAG S-antigen visual arrestin IAGP ClinVar Annotator: match by term: Oguchi disease-2 ClinVar PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital stationary night blindness 266
        Oguchi disease-2 20
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              Vision Disorders 2149
                night blindness 296
                  hereditary night blindness 266
                    congenital stationary night blindness 266
                      Oguchi disease-2 20
paths to the root