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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 chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            autosomal genetic disease 9398
              autosomal dominant disease 6083
                Parkinson's disease 21 1
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        central nervous system disease 10971
          brain disease 10296
            movement disease 2375
              Parkinsonism 401
                Parkinson's disease 321
                  late onset Parkinson's disease 24
                    Parkinson's disease 21 1
paths to the root