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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;   Parkinson disease juvenile type 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: MIM: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 2:178,046,192...178,127,633
Ensembl chr 2:178,046,085...178,147,315 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:1940 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 More... NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:124,706,080...124,867,239 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinson disease, juvenile, type 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 More... NCBI chr 1:52,430,390...52,853,272
Ensembl chr 1:52,430,284...52,853,269 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:166,636,552...166,659,825 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 PMID:26864383 NCBI chr 4:61,102,434...61,149,131
Ensembl chr 4:61,102,419...61,149,789 		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: Parkinson disease, juvenile, type 2 | 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 1:51,236,410...52,430,242
Ensembl chr 1:51,210,330...52,430,304 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 PMID:26942284 NCBI chr 8:77,359,499...77,533,009
Ensembl chr 8:77,359,504...77,531,871 		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 recessive disease 7090
                Parkinson's disease 2 7
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
                  early-onset Parkinson's disease 100
                    Parkinson's disease 2 7
paths to the root