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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 57
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Accession:DOID:0110407 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: RP57
 primary_id: OMIM:613582
 alt_id: RDO:0015810
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:20655036 NCBI chr10:109,620,499...109,625,214
Ensembl chr10:109,620,980...109,622,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        fundus dystrophy 331
          retinitis pigmentosa 264
            retinitis pigmentosa 57 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    retinitis pigmentosa 57 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.