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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:Parkinson's disease 21
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Accession:DOID:0111251 term browser browse the term
Definition:A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. (DO)
Synonyms:exact_synonym: PARK21;   Parkinson disease 21;   Parkinson disease type 21
 xref: MIM:616361;   MONDO:0014604


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Parkinson's disease 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease 21 ClinVar PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532 NCBI chr 8:113,646,573...113,756,104
Ensembl chr 8:113,646,573...113,756,104 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                Parkinson's disease 21 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Parkinsonism 459
                Parkinson's disease 376
                  late onset Parkinson's disease 29
                    Parkinson's disease 21 1
paths to the root