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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 37
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Accession:DOID:0110399 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)
Synonyms:exact_synonym: RP37
 broad_synonym: NR2E3-RELATED CONDITION;   NR2E3-RELATED DISORDER;   NR2E3-RELATED DISORDERS
 primary_id: MESH:C567005
 alt_id: OMIM:611131;   RDO:0015195


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Hereditary Eye Diseases 1097
          retinitis pigmentosa 600
            retinitis pigmentosa 37 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 37 1
paths to the root