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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 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        fundus dystrophy 378
          retinitis pigmentosa 306
            retinitis pigmentosa 86 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal degeneration 509
                fundus dystrophy 378
                  retinitis pigmentosa 306
                    retinitis pigmentosa 86 1
paths to the root