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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:15541309, PMID:15680455, PMID:15680456, PMID:15680457, PMID:15726496, PMID:15732108, PMID:15811455, PMID:15852371, PMID:15929036, PMID:16102999, PMID:16145815, PMID:16157901, 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:17200152, PMID:17215492, PMID:17353388, PMID:17938369, PMID:18213618, 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:25330418, PMID:25493281, PMID:25741868, PMID:26251043, PMID:26467025, PMID:28103901, 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: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:30311386, 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Parkinson's disease 2 4
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  early-onset Parkinson's disease 17
                    Parkinson's disease 2 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.