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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 2
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Accession:DOID:0110415 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: RP2
 primary_id: MESH:C567523
 alt_id: OMIM:312600


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retinitis pigmentosa 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:312600 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO
ISS		 ClinVar Annotator: match by term: Retinitis pigmentosa 2
CTD Direct Evidence: marker/mechanism
OMIM:312600		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
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 2 2
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 2 2
paths to the root