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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:early-onset Parkinson's disease
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Accession:DOID:0060894 term browser browse the term
Definition:A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age. (DO)
Synonyms:exact_synonym: early-onset Parkinson disease
 primary_id: RDO:9001986
 alt_id: ORDO:391411
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Kufor-Rakeb syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Kufor-Rakeb syndrome
ClinVar Annotator: match by term: Parkinson disease 9
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606693
OMIM
ClinVar
CTD
PMID:495089, PMID:12169656, PMID:16964263, PMID:17485642, PMID:18075584, PMID:18075585, PMID:18414213, PMID:19015489, PMID:19085912, PMID:19360675, PMID:19458722, PMID:19705361, PMID:20137506, PMID:20816920, PMID:20853184, PMID:21060012, PMID:21094623, PMID:21542062, PMID:21665991, PMID:21696388, PMID:21714071, PMID:21724849, PMID:22022275, PMID:22296644, PMID:22388936, PMID:22743658, PMID:22768177, PMID:22847264, PMID:22995991, PMID:23499937, PMID:24088041, PMID:24399444, PMID:25374329, PMID:25466404, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27294386, PMID:28492532, PMID:29903538 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678, PMID:19038853, PMID:20603184, PMID:23352116, PMID:24112787, PMID:25029497, PMID:25174650, PMID:25741868, PMID:27294386, PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
Parkinson's disease 19A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset
ClinVar Annotator: match by term: Parkinson disease 19b, early-onset
OMIM
ClinVar
PMID:2256350, PMID:22563501, PMID:23211418, PMID:24220513, PMID:25741868, PMID:26528954, PMID:26703368, PMID:28492532, PMID:32214227 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
JBrowse link
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
Parkinson's disease 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset OMIM
ClinVar
PMID:23804563, PMID:23804577, PMID:24609975, PMID:25316601, PMID:25741868, PMID:26046367, PMID:26467025, PMID:27393345, PMID:27435091, PMID:27496670, PMID:27869329, PMID:28135719, PMID:28492532, PMID:29163333, PMID:30311386 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
Parkinson's disease 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease 23, autosomal recessive early-onset ClinVar
OMIM
PMID:25741868, PMID:26942284, PMID:28492532 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
JBrowse link
Parkinson's disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835, PMID:21457906 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by synonym: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar Annotator: match by term: PINK1-Related Parkinsonism
ClinVar Annotator: match by OMIM:605909
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2345993, PMID:2546640, PMID:15087508, PMID:15349860, PMID:15349870, PMID:15349871, PMID:15584030, PMID:15596610, PMID:15824318, PMID:15955953, PMID:15970950, PMID:16009891, PMID:16207217, PMID:16207731, PMID:16257123, PMID:16401616, PMID:16482571, PMID:16547921, PMID:16632486, PMID:16702191, PMID:16755580, PMID:16769864, PMID:16805805, PMID:16966503, PMID:16969854, PMID:17030667, PMID:17055324, PMID:17172567, PMID:17579517, PMID:17960343, PMID:18003639, PMID:18330912, PMID:18359116, PMID:18403612, PMID:18486522, PMID:18524835, PMID:18546294, PMID:18685134, PMID:18704525, PMID:18785233, PMID:19048950, PMID:19087301, PMID:19229105, PMID:19351622, PMID:19847793, PMID:19889566, PMID:19890973, PMID:20126261, PMID:20356854, PMID:20506312, PMID:20558144, PMID:20981092, PMID:21412950, PMID:21421046, PMID:21488273, PMID:21534944, PMID:21925922, PMID:21996382, PMID:22118943, PMID:22243833, PMID:22445250, PMID:22451330, PMID:22644621, PMID:22764206, PMID:22956510, PMID:23303188, PMID:23459931, PMID:23986421, PMID:24033266, PMID:24167364, PMID:24374372, PMID:24475098, PMID:24660942, PMID:25466404, PMID:25741868, PMID:26274610, PMID:26467025, PMID:27003823, PMID:27094865, PMID:27574110, PMID:27884173, PMID:28492532, PMID:28849312 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
Parkinson's disease 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease 7
ClinVar Annotator: match by term: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606324
OMIM
ClinVar
CTD
PMID:1818649, PMID:12446870, PMID:12891675, PMID:12891685, PMID:12953260, PMID:14662519, PMID:14705128, PMID:14872018, PMID:15219840, PMID:15254937, PMID:15365989, PMID:15790532, PMID:15944198, PMID:16997464, PMID:18181649, PMID:18436956, PMID:18436965, PMID:18973254, PMID:19405094, PMID:19429112, PMID:20639397, PMID:20981092, PMID:21532868, PMID:22173095, PMID:22428580, PMID:22492997, PMID:23241025, PMID:23792957, PMID:25741868, PMID:26274610, PMID:26467025, PMID:27294386, PMID:27592010, PMID:27884173, PMID:28348719, PMID:28492532, PMID:28993701, PMID:29599708 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
Waisman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Parkinsonism, early onset with mental retardation ClinVar PMID:25434005 NCBI chr20:295,338...310,363
Ensembl chr20:295,250...310,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        neurodegenerative disease 3190
          synucleinopathy 274
            Parkinson's disease 250
              early-onset Parkinson's disease 17
                Kufor-Rakeb syndrome 1
                Parkinson's disease 15 1
                Parkinson's disease 19A 1
                Parkinson's disease 2 4
                Parkinson's disease 20 2
                Parkinson's disease 23 1
                Parkinson's disease 6 6
                Parkinson's disease 7 1
                Waisman syndrome 1
                juvenile-onset Parkinson's disease + 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            basal ganglia disease 570
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  early-onset Parkinson's disease 17
                    Kufor-Rakeb syndrome 1
                    Parkinson's disease 15 1
                    Parkinson's disease 19A 1
                    Parkinson's disease 2 4
                    Parkinson's disease 20 2
                    Parkinson's disease 23 1
                    Parkinson's disease 6 6
                    Parkinson's disease 7 1
                    Waisman syndrome 1
                    juvenile-onset Parkinson's disease + 0
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.