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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
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinson's disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 7:122,826,712...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: Young-onset Parkinson disease ClinVar PMID:16328510 PMID:20399249 PMID:25741868 PMID:26467025 PMID:28492532 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 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
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 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Parkinson's disease 2 5
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Parkinsonism 396
                Parkinson's disease 316
                  early-onset Parkinson's disease 50
                    Parkinson's disease 2 5
paths to the root