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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 74
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Accession:DOID:0110401 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: RP74
 broad_synonym: BBS2-RELATED DISORDER;   BBS2-RELATED DISORDERS
 primary_id: OMIM:616562
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 74 OMIM
ClinVar
PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 PMID:21052717 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2961
        fundus dystrophy 389
          retinitis pigmentosa 313
            retinitis pigmentosa 74 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        sensory system disease 6435
          eye disease 2961
            retinal disease 879
              retinal degeneration 534
                fundus dystrophy 389
                  retinitis pigmentosa 313
                    retinitis pigmentosa 74 1
paths to the root