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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 17
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Accession:DOID:0110404 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. (DO)
Synonyms:exact_synonym: RP17
 primary_id: MESH:C563437
 alt_id: OMIM:600852
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 PMID:17652713 PMID:20238024 PMID:20626030 PMID:25741868 PMID:28492532 PMID:33022222 NCBI chr10:72,272,286...72,281,069
Ensembl chr10:72,272,248...72,281,067
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 17 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 17 1
paths to the root