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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

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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 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chrNW_004955563:1,745,202...1,823,411
Ensembl chrNW_004955563:1,746,838...1,772,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      eye disease 3166
        Hereditary Eye Diseases 1034
          retinitis pigmentosa 569
            Retinitis Pigmentosa 78 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              retinal disease 1107
                retinal degeneration 781
                  fundus dystrophy 660
                    retinitis pigmentosa 569
                      Retinitis Pigmentosa 78 1
paths to the root