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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 PMID:15811455 PMID:15852371 PMID:15929036 PMID:16145815 PMID:16240353 PMID:16269541 PMID:16272257 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16728648 PMID:16960813 PMID:16966502 PMID:17050822 PMID:17060595 PMID:17215492 PMID:17353388 PMID:17938369 PMID:18539535 PMID:18675914 PMID:18704525 PMID:18752982 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:20008657 PMID:20197411 PMID:21115957 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23396536 PMID:23472874 PMID:24033266 PMID:24243757 PMID:24863511 PMID:25107341 PMID:25309331 PMID:25493281 PMID:25741868 PMID:26251043 PMID:26467025 PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Parkinson disease 2 ClinVar PMID:16328510 PMID:28492532 NCBI chr 1:50,070,273...50,491,323 JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease 2 ClinVar PMID:26864383 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar Annotator: match by term: Parkinson disease 2
OMIM
ClinVar
PMID:7565830 PMID:9560156 PMID:9731209 PMID:9802278 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10894217 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11163284 PMID:11179010 PMID:11402119 PMID:11405814 PMID:11487568 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12056932 PMID:12116199 PMID:12397156 PMID:12629236 PMID:12707457 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12891670 PMID:12975291 PMID:14519684 PMID:15090472 PMID:15193026 PMID:15390068 PMID:15606901 PMID:15816865 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16086186 PMID:16130111 PMID:16227559 PMID:16269266 PMID:16328510 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16500134 PMID:16606767 PMID:16643317 PMID:16714300 PMID:16769863 PMID:16793319 PMID:17187375 PMID:17415800 PMID:17766365 PMID:17914726 PMID:18211709 PMID:18413468 PMID:18486522 PMID:18514563 PMID:18519021 PMID:18685134 PMID:18927607 PMID:18973255 PMID:19006224 PMID:19162522 PMID:19205068 PMID:19405094 PMID:19636047 PMID:19715670 PMID:19801972 PMID:19946270 PMID:20301651 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21215313 PMID:21322020 PMID:21348451 PMID:21534944 PMID:21681106 PMID:21694720 PMID:21993715 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22302706 PMID:22523156 PMID:22555654 PMID:22766139 PMID:22777964 PMID:22956510 PMID:22995991 PMID:23275044 PMID:23531835 PMID:23727886 PMID:23751051 PMID:23770917 PMID:23818421 PMID:23835509 PMID:23880019 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24375549 PMID:24647965 PMID:24677602 PMID:24816432 PMID:24831986 PMID:25174650 PMID:25238391 PMID:25558820 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27006626 PMID:27094865 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27534820 PMID:28492532 PMID:30537300 PMID:32214227 NCBI chr 1:48,880,015...50,069,998 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                Parkinson's disease 2 4
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Parkinsonian Disorders 333
                Parkinson's disease 255
                  early-onset Parkinson's disease 17
                    Parkinson's disease 2 4
paths to the root