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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 56
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Accession:DOID:0110371 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. (DO)
Synonyms:exact_synonym: RP56
 primary_id: OMIM:613581
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
retinitis pigmentosa 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 56 OMIM
ClinVar
PMID:20673862 PMID:24876279 PMID:25741868 PMID:28492532 PMID:28559085 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        fundus dystrophy 393
          retinitis pigmentosa 315
            retinitis pigmentosa 56 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              eye degenerative disease 541
                retinal degeneration 539
                  fundus dystrophy 393
                    retinitis pigmentosa 315
                      retinitis pigmentosa 56 1
paths to the root