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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 CONDITION;   NR2E3-RELATED DISORDER;   NR2E3-RELATED DISORDERS
 xref: MESH:C567005;   MIM:611131;   MONDO:0012625


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 37 		OMIM
CTD
ClinVar		 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15459973 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		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 37 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
              eye degenerative disease 934
                retinal degeneration 932
                  fundus dystrophy 788
                    retinitis pigmentosa 611
                      retinitis pigmentosa 37 1
paths to the root