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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 47
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Accession:DOID:0110369 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: RP47
 primary_id: OMIM:613758;   RDO:9000502
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 47 OMIM
ClinVar
PMID:7670478 PMID:9565049 PMID:15234147 PMID:15295660 PMID:17200654 PMID:21447990 PMID:21922265 PMID:21987685 PMID:25268133 PMID:25741868 PMID:28492532 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 47 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 47 1
paths to the root