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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 89
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Accession:DOID:0112146 term browser browse the term
Definition:A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in KIF3B on chromosome 20q11.21. (DO)
Synonyms:exact_synonym: RP89
 primary_id: OMIM:618955
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 89 OMIM
ClinVar
PMID:32386558 NCBI chr 3:141,758,466...141,798,012
Ensembl chr 3:141,758,466...141,797,963
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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 89 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 89 1
paths to the root