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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 IAGP
EXP		 ClinVar Annotator: match by term: Retinitis pigmentosa 78
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        Hereditary Eye Diseases 1625
          retinitis pigmentosa 887
            Retinitis Pigmentosa 78 1
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              retinal disease 2030
                retinal degeneration 1179
                  fundus dystrophy 1015
                    retinitis pigmentosa 887
                      Retinitis Pigmentosa 78 1
paths to the root