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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 83
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Accession:DOID:0112140 term browser browse the term
Definition:A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. (DO)
Synonyms:exact_synonym: RP83
 primary_id: OMIM:618173


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retinitis pigmentosa 83 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 83 OMIM
ClinVar		 PMID:25741868 PMID:26964041 PMID:28492532 PMID:30932721 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            retinitis pigmentosa 83 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 83 1
paths to the root