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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 54
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Accession:DOID:0110364 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: RP54;   Rod-cone dysplasia 4
 primary_id: OMIM:613428
 alt_id: OMIA:001575;   RDO:0015804
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by OMIM:613428
ClinVar Annotator: match by term: Retinitis pigmentosa 54
OMIM
ClinVar
PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 PMID:25741868 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:33546218 NCBI chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
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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 54 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 54 1
paths to the root