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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 79
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Accession:DOID:9006996 term browser browse the term
Synonyms:exact_synonym: RP79
 primary_id: OMIM:617460
 alt_id: RDO:9001726
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Retinitis Pigmentosa 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 79 OMIM
ClinVar
PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 PMID:30778173 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
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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 79 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 79 1
paths to the root