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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 81
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Accession:DOID:0080292 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: RP81
 primary_id: OMIM:617871



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retinitis pigmentosa 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT43 intraflagellar transport 43 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa 81 OMIM
ClinVar
PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 More... NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      eye disease 4887
        fundus dystrophy 1008
          retinitis pigmentosa 887
            retinitis pigmentosa 81 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          sensory system disease 9679
            eye disease 4887
              eye degenerative disease 1173
                retinal degeneration 1171
                  fundus dystrophy 1008
                    retinitis pigmentosa 887
                      retinitis pigmentosa 81 1
paths to the root