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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 97
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Accession:DOID:9005533 term browser browse the term
Definition:This disease is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity.
Synonyms:exact_synonym: RP97
 primary_id: OMIM:620422


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RETINITIS PIGMENTOSA 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 97 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chr22:8,799,044...9,153,627
Ensembl chr22:8,798,090...9,149,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      eye disease 3363
        Hereditary Eye Diseases 1095
          retinitis pigmentosa 602
            RETINITIS PIGMENTOSA 97 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            eye disease 3363
              retinal disease 1183
                retinal degeneration 828
                  fundus dystrophy 698
                    retinitis pigmentosa 602
                      RETINITIS PIGMENTOSA 97 1
paths to the root