Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 18
go back to main search page
Accession:DOID:0110356 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: RP18
 primary_id: MESH:C563320
 alt_id: OMIM:601414;   RDO:0012611
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by OMIM:601414
ClinVar Annotator: match by term: Retinitis pigmentosa 18
ClinVar
OMIM
PMID:11773002, PMID:15085354, PMID:17932117, PMID:18412284, PMID:20309403, PMID:20811066, PMID:25741868, PMID:28492532, PMID:28559085 NCBI chr 2:197,947,010...197,971,464
Ensembl chr 2:197,947,010...197,971,463
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          retinitis pigmentosa 266
            retinitis pigmentosa 18 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    retinitis pigmentosa 18 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.