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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 85
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Accession:DOID:0112142 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. (DO)
Synonyms:exact_synonym: RP85
 primary_id: OMIM:618345
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 85 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 85 OMIM
ClinVar
PMID:29726989 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        fundus dystrophy 333
          retinitis pigmentosa 267
            retinitis pigmentosa 85 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            retinal disease 777
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 267
                    retinitis pigmentosa 85 1
paths to the root