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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 50
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Accession:DOID:0110396 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: RP50
 narrow_synonym: concentric retinitis pigmentosa
 primary_id: MESH:C567712
 alt_id: OMIM:613194;   RDO:0015706;   RDO:0015802
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 50 OMIM
ClinVar
PMID:9700209 PMID:19853238 PMID:21330666 PMID:24560797 PMID:25741868 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 50 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      eye disease 2932
        fundus dystrophy 389
          retinitis pigmentosa 313
            retinitis pigmentosa 50 2
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          eye disease 2932
            retinal disease 870
              retinal degeneration 530
                fundus dystrophy 389
                  retinitis pigmentosa 313
                    retinitis pigmentosa 50 2
paths to the root