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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 chr15:54,252,703...54,576,871
Ensembl chr15:54,252,584...54,576,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            RETINITIS PIGMENTOSA 97 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      RETINITIS PIGMENTOSA 97 1
paths to the root