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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


show annotations for term's descendants           Sort by:
retinitis pigmentosa 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 More... NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 17 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 17 1
paths to the root