.
congenital stationary night blindness 1F - 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:congenital stationary night blindness 1F
go back to main search page
Accession:DOID:0110864 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: CSNB1F;   congenital stationary night blindness 1F autosomal recessive;   congenital stationary night blindness, type 1F
 broad_synonym: LRIT3-related condition
 xref: MIM:615058;   MONDO:0014026

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
congenital stationary night blindness 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624830:55,940...74,213
Ensembl chrNW_004624830:55,955...74,213 		JBrowse link
G G LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 7:57,746,057...57,773,816
Ensembl chr 7:57,746,478...57,771,365 		JBrowse link
G P LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 8:112,349,485...112,381,992
Ensembl chr 8:112,360,222...112,376,410 		JBrowse link
G S Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936563:1,036,079...1,054,778
Ensembl chrNW_004936563:1,035,940...1,053,766 		JBrowse link
G D LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr32:30,024,765...30,044,845
Ensembl chr32:30,026,897...30,041,996 		JBrowse link
G B LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 4:102,345,090...102,369,525
Ensembl chr 4:112,912,888...112,937,619 		JBrowse link
G C Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955496:434,236...456,239
Ensembl chrNW_004955496:434,236...456,239 		JBrowse link
G R 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
Ensembl chr 2:218,337,819...218,357,307 		JBrowse link
G M Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 ISO
IAGP 		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 3:129,577,590...129,597,785
Ensembl chr 3:129,581,530...129,597,679 		JBrowse link
G H LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 IAGP
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1F
ClinVar Annotator: match by term: LRIT3-related condition
ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition
OMIM:615058 		ClinVar
MouseDO
OMIM		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 4:109,848,107...109,872,315
Ensembl chr 4:109,848,107...109,872,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    physical disorder 54054
      congenital stationary night blindness 266
        congenital stationary night blindness 1F 10
Path 2
Term Annotations click to browse term
  disease 292546
    Pathological Conditions, Signs and Symptoms 179824
      Signs and Symptoms 137773
        Neurologic Manifestations 126851
          sensory system disease 89671
            eye disease 42492
              Vision Disorders 2129
                night blindness 296
                  hereditary night blindness 266
                    congenital stationary night blindness 266
                      congenital stationary night blindness 1F 10
paths to the root