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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 66
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Accession:DOID:0110393 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: RBP3-RELATED CONDITION;   RP66
 primary_id: MIM:615233


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retinitis pigmentosa 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: RBP3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 66 OMIM
ClinVar		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        Hereditary Eye Diseases 1149
          retinitis pigmentosa 611
            retinitis pigmentosa 66 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              retinal disease 1474
                retinal degeneration 932
                  fundus dystrophy 788
                    retinitis pigmentosa 611
                      retinitis pigmentosa 66 1
paths to the root