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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 27
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Accession:DOID:0110397 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: RP27
 narrow_synonym: autosomal recessive retinal degeneration, clumped pigment type
 primary_id: MESH:C563526
 alt_id: OMIM:613750


show annotations for term's descendants           Sort by:
retinitis pigmentosa 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 27		 OMIM
CTD
ClinVar		 PMID:10192380 PMID:11039579 PMID:11385710 PMID:11694879 PMID:11879142 More... NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 27 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 27 1
paths to the root