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 44
go back to main search page
Accession:DOID:0110394 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: RP44
 primary_id: OMIM:613769;   RDO:9000500
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by OMIM:613769
ClinVar Annotator: match by term: Retinitis pigmentosa 44
OMIM
ClinVar
PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 PMID:27748892 PMID:28492532 PMID:30337596 PMID:33546218 NCBI chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 44 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 44 1
paths to the root