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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 28
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Accession:DOID:0110365 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)
Synonyms:exact_synonym: RP28
 primary_id: OMIM:606068
 alt_id: RDO:0016052
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 28 OMIM
ClinVar
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 PMID:24651477 PMID:25007332 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31236346 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 28 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 28 1
paths to the root