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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 87
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Accession:DOID:0112144 term browser browse the term
Definition:A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. (DO)
Synonyms:exact_synonym: RP87;   retinitis pigmentosa 87 with choroidal involvement
 primary_id: OMIM:618697


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            retinitis pigmentosa 87 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              eye degenerative disease 856
                retinal degeneration 854
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 87 1
paths to the root