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   new 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

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:Optic Atrophy 13
go back to main search page
Accession:DOID:9005656 term browser browse the term
Synonyms:exact_synonym: OPA13;   optic atrophy 13 with retinal and foveal abnormalities;   optic atrophy with negative electroretinograms
 primary_id: MESH:C563494
 alt_id: MIM:165510

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Optic Atrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities OMIM
ClinVar		 PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829 NCBI chrNW_004955494:1,807,885...1,826,375
Ensembl chrNW_004955494:1,814,106...1,826,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    sensory system disease 6250
      eye disease 3185
        Hereditary Eye Diseases 1040
          Hereditary Optic Atrophies 70
            Optic Atrophy 13 1
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      nervous system disease 12143
        Neurologic Manifestations 8911
          sensory system disease 6250
            eye disease 3185
              optic nerve disease 349
                optic atrophy 178
                  Hereditary Optic Atrophies 70
                    Optic Atrophy 13 1
paths to the root