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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


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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 200 (U5) ISO ClinVar Annotator: match by term: Retinitis pigmentosa 33
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 PMID:23029027 More... NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      eye disease 3459
        fundus dystrophy 722
          retinitis pigmentosa 623
            retinitis pigmentosa 33 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          sensory system disease 6744
            eye disease 3459
              eye degenerative disease 860
                retinal degeneration 858
                  fundus dystrophy 722
                    retinitis pigmentosa 623
                      retinitis pigmentosa 33 1
paths to the root