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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 37
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Accession:DOID:0110399 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)
Synonyms:exact_synonym: RP37
 broad_synonym: NR2E3-RELATED DISORDER;   NR2E3-RELATED DISORDERS
 primary_id: MESH:C567005
 alt_id: OMIM:611131;   RDO:0015195
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa 37
OMIM
ClinVar
PMID:10655056 PMID:12963616 PMID:15453866 PMID:15459973 PMID:17564971 PMID:17601449 PMID:17982421 PMID:18294254 PMID:19006237 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24265693 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26910043 PMID:27013732 PMID:28041643 PMID:28300834 PMID:28418496 PMID:28492532 PMID:30311386 PMID:30324420 PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        Hereditary Eye Diseases 582
          retinitis pigmentosa 270
            retinitis pigmentosa 37 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 37 1
paths to the root