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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: RP66
 primary_id: OMIM: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: Retinitis pigmentosa 66
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		JBrowse link
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 66 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
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 66 1
paths to the root