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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 26
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Accession:DOID:0110368 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: RETINITIS PIGMENTOSA TYPE 26;   RP26
 primary_id: MESH:C564249
 alt_id: OMIM:608380;   RDO:0013275
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 OMIM
ClinVar
PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        fundus dystrophy 385
          retinitis pigmentosa 310
            retinitis pigmentosa 26 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            retinal disease 865
              retinal degeneration 525
                fundus dystrophy 385
                  retinitis pigmentosa 310
                    retinitis pigmentosa 26 2
paths to the root