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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 39
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Accession:DOID:0110360 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: RP39
 broad_synonym: USH2A-RELATED CONDITION;   USH2A-RELATED DISORDER
 primary_id: OMIM:613809


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retinitis pigmentosa 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush2a usherin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 39		 OMIM
CTD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 39 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              retinal disease 1221
                retinal degeneration 851
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 39 1
paths to the root