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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 RPE65 on chromosome 1p31.3. (DO)
Synonyms:exact_synonym: RP87;   retinitis pigmentosa 87 with choroidal involvement
 primary_id: OMIM:618697
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 87 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT OMIM
ClinVar
PMID:21654732 PMID:25741868 PMID:27307694 PMID:28041994 PMID:28492532 PMID:29659842 PMID:29947567 PMID:30628748 PMID:31379919 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 87 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 87 1
paths to the root