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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
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by OMIM:613750
ClinVar Annotator: match by term: Retinitis pigmentosa 27
OMIM
ClinVar
PMID:10192380 PMID:11039579 PMID:11385710 PMID:12796249 PMID:15591106 PMID:17335001 PMID:17374726 PMID:21981118 PMID:22334370 PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 27 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 27 1
paths to the root