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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 13
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Accession:DOID:0110403 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: RP13
 primary_id: MESH:C564008
 alt_id: OMIM:600059
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 13 OMIM
ClinVar
PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 More... NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      eye disease 2927
        fundus dystrophy 387
          retinitis pigmentosa 311
            retinitis pigmentosa 13 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          eye disease 2927
            retinal disease 865
              retinal degeneration 527
                fundus dystrophy 387
                  retinitis pigmentosa 311
                    retinitis pigmentosa 13 1
paths to the root