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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
 alt_id: RDO:0015809
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613581
ClinVar Annotator: match by term: Retinitis pigmentosa 56
OMIM
ClinVar
PMID:20673862, PMID:24876279, PMID:28492532, PMID:30718709 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          retinitis pigmentosa 266
            retinitis pigmentosa 56 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    retinitis pigmentosa 56 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.