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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 18
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Accession:DOID:0110356 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: RP18
 primary_id: MESH:C563320
 alt_id: OMIM:601414;   RDO:0012611


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retinitis pigmentosa 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf3 pre-mRNA processing factor 3 ISO
ISS		 ClinVar Annotator: match by term: Retinitis pigmentosa 18
CTD Direct Evidence: marker/mechanism
OMIM:601414		 OMIM
ClinVar
CTD
MouseDO		 PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 18 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 18 1
paths to the root