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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 6
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Accession:DOID:0110413 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)
Synonyms:exact_synonym: RP6;   Retinitis Pigmentosa, X-Linked Recessive, 6
 primary_id: MESH:C564065;   RDO:0013151
 alt_id: OMIM:312612
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        fundus dystrophy 334
          retinitis pigmentosa 269
            retinitis pigmentosa 6 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            retinal disease 780
              retinal degeneration 465
                fundus dystrophy 334
                  retinitis pigmentosa 269
                    retinitis pigmentosa 6 1
paths to the root