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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 LOC101965792 von Willebrand factor A domain-containing protein 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 97 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chrNW_004936747:1,798,200...2,018,722
Ensembl chrNW_004936747:1,797,136...2,064,072 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      eye disease 3213
        Hereditary Eye Diseases 1042
          retinitis pigmentosa 568
            RETINITIS PIGMENTOSA 97 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              retinal disease 1118
                retinal degeneration 782
                  fundus dystrophy 662
                    retinitis pigmentosa 568
                      RETINITIS PIGMENTOSA 97 1
paths to the root