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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 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 81 OMIM
ClinVar		 PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 More... NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      eye disease 3459
        fundus dystrophy 722
          retinitis pigmentosa 623
            retinitis pigmentosa 81 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          sensory system disease 6744
            eye disease 3459
              eye degenerative disease 860
                retinal degeneration 858
                  fundus dystrophy 722
                    retinitis pigmentosa 623
                      retinitis pigmentosa 81 1
paths to the root