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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 78
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Accession:DOID:9003675 term browser browse the term
Synonyms:exact_synonym: RP78
 primary_id: OMIM:617433
 alt_id: RDO:9001725
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Retinitis Pigmentosa 78 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 78
ClinVar Annotator: match by term: Retinitis pigmentosa 78
ClinVar
OMIM
PMID:25741868 PMID:28132693 PMID:28492532 NCBI chr12:1,889,252...1,998,128
Ensembl chr12:1,889,331...1,998,127
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 78 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 78 1
paths to the root