Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 33
go back to main search page
Accession:DOID:0110366 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: RP33
 primary_id: MESH:C563676
 alt_id: OMIM:610359;   RDO:0012873
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by OMIM:610359
ClinVar Annotator: match by term: Retinitis pigmentosa 33
OMIM
ClinVar
PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 PMID:23029027 More... NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        fundus dystrophy 378
          retinitis pigmentosa 306
            retinitis pigmentosa 33 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal degeneration 509
                fundus dystrophy 378
                  retinitis pigmentosa 306
                    retinitis pigmentosa 33 1
paths to the root