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:retinitis pigmentosa 30
go back to main search page
Accession:DOID:0110406 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: RP30
 narrow_synonym: MACULAR DEGENERATION
 primary_id: MESH:C564310;   RDO:0013319
 alt_id: OMIM:607921


show annotations for term's descendants           Sort by:
retinitis pigmentosa 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:607921
ClinVar Annotator: match by term: Retinitis pigmentosa 30		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        Hereditary Eye Diseases 1095
          retinitis pigmentosa 600
            retinitis pigmentosa 30 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 30 1
paths to the root