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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 86
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Accession:DOID:0112143 term browser browse the term
Definition:A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in KIAA1549 on chromosome 7q34. (DO)
Synonyms:exact_synonym: RP86
 primary_id: OMIM:618613
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1306271 similar to KIAA1549 protein ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 86 OMIM
ClinVar
PMID:30120214 NCBI chr 4:65,834,933...65,962,722
Ensembl chr 4:65,834,035...65,962,539
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        fundus dystrophy 333
          retinitis pigmentosa 267
            retinitis pigmentosa 86 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            retinal disease 777
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 267
                    retinitis pigmentosa 86 1
paths to the root