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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 19
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Accession:DOID:0110354 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. (DO)
Synonyms:exact_synonym: RP19
 primary_id: MESH:C566637
 alt_id: OMIM:601718;   RDO:0014943
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 19 OMIM
ClinVar
PMID:9054934 PMID:9070931 PMID:9295268 PMID:9425888 PMID:9466990 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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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 19 1
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 19 1
paths to the root