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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 43
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Accession:DOID:0110379 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. (DO)
Synonyms:exact_synonym: RP43;   Rod-cone dysplasia 3
 primary_id: OMIM:613810;   RDO:9000499
 alt_id: OMIA:001314
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by OMIM:613810
ClinVar Annotator: match by term: Retinitis pigmentosa 43
OMIM
ClinVar
PMID:7493036 PMID:10393062 PMID:17110911 PMID:18849587 PMID:21039428 PMID:21147909 PMID:24265693 PMID:24416769 PMID:24512775 PMID:25741868 PMID:25999674 PMID:26188004 PMID:26321862 PMID:27551530 PMID:28157543 PMID:28492532 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
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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 43 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 43 1
paths to the root