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 78
go back to main search page
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 16929
    sensory system disease 5335
      eye disease 2646
        fundus dystrophy 344
          retinitis pigmentosa 279
            Retinitis Pigmentosa 78 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          eye disease 2646
            retinal disease 806
              retinal degeneration 479
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Retinitis Pigmentosa 78 1
paths to the root