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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 33
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Accession:DOID:0110366 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: RP33
 primary_id: MESH:C563676
 alt_id: OMIM:610359;   RDO:0012873
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by OMIM:610359
ClinVar Annotator: match by term: Retinitis pigmentosa 33
OMIM
ClinVar
PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 PMID:23029027 PMID:24302620 PMID:24940031 PMID:25741868 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30360737 PMID:30718709 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
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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 33 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 33 1
paths to the root