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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 23
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Accession:DOID:0110412 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: RP23
 primary_id: OMIM:300424
 alt_id: RDO:0016049
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 23 ClinVar
OMIM
PMID:10892847 PMID:22619378 PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    sensory system disease 5664
      eye disease 2768
        fundus dystrophy 379
          retinitis pigmentosa 306
            retinitis pigmentosa 23 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          eye disease 2768
            retinal disease 841
              retinal degeneration 511
                fundus dystrophy 379
                  retinitis pigmentosa 306
                    retinitis pigmentosa 23 1
paths to the root