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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 2
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Accession:DOID:0060368 term browser browse the term
Definition:An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)
Synonyms:exact_synonym: PARK2;   Parkinson disease 2;   autosomal recessive Parkinson disease, early onset;   autosomal recessive juvenile Parkinson disease 2;   autosomal recessive juvenile Parkinson's disease 2;   early onset Parkinsonism with diurnal fluctuation;   young-onset Parkinson disease
 alt_id: OMIM:600116
 xref: NCI:C198603


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Parkinson's disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 More... NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 ClinVar PMID:26864383 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO
ISS		 OMIM:600116
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease		 OMIM
MouseDO
ClinVar		 PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                Parkinson's disease 2 6
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Parkinsonism 452
                Parkinson's disease 371
                  early-onset Parkinson's disease 100
                    Parkinson's disease 2 6
paths to the root