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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:Hyperkinesis
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Accession:DOID:9002362 term browser browse the term
Definition:Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Synonyms:exact_synonym: Generalized Hyperkinesia;   Generalized Hyperkinesias;   Hyperkinesia;   Hyperkinetic Movement;   Hyperkinetic Movements;   Motor Hyperactivity
 primary_id: MESH:D006948



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Hyperkinesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628
JBrowse link
G ADCY8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 4:9,645,398...9,867,065
Ensembl chr 4:9,645,659...9,866,550
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CALCB calcitonin-related polypeptide beta ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr 2:44,043,135...44,048,651 JBrowse link
G CCK cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr 9:109,740,510...111,781,144 JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G DISC1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr14:58,606,441...58,963,954
Ensembl chr14:58,606,464...58,963,563
JBrowse link
G DRD1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976
JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
JBrowse link
G DRD3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168
JBrowse link
G DRD4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr 7:22,547,938...22,577,639
Ensembl chr 7:22,548,566...22,577,771
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242
JBrowse link
G GIT1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,587...69,655,380
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 8:46,078,122...46,247,144
Ensembl chr 8:46,078,276...46,241,914
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:94,053,415...94,313,352
Ensembl chr  X:94,053,456...94,313,355
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr14:102,443,312...102,548,894
Ensembl chr14:102,444,588...102,548,907
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G MAP6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr 9:9,810,923...9,937,651
Ensembl chr 9:9,810,926...9,901,494
JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673
JBrowse link
G NPS neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr14:136,835,630...136,839,511
Ensembl chr14:136,836,352...136,839,510
JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
JBrowse link
G NTS neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr 5:96,261,299...96,272,947
Ensembl chr 5:96,260,560...96,272,976
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297
JBrowse link
G SNCG synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,659...87,922,095
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
JBrowse link
Infantile-Onset Limb and Orofacial Dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE10A phosphodiesterase 10A ISO ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition OMIM
ClinVar
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 More... NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:2,829,411...3,392,651
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28971144 PMID:33704598 PMID:34631954 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ClinVar
OMIM
PMID:30564627 PMID:35880319 NCBI chr14:109,008,143...109,043,517
Ensembl chr14:109,008,161...109,043,515
JBrowse link
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition OMIM
ClinVar
PMID:25741868 PMID:27066578 PMID:30389958 PMID:31036918 PMID:35616059 More... NCBI chr15:120,688,836...120,707,743 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Signs and Symptoms 10145
        Neurologic Manifestations 9826
          Dyskinesias 2137
            Hyperkinesis 38
              Infantile-Onset Limb and Orofacial Dyskinesia 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
              Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      nervous system disease 13251
        central nervous system disease 11841
          brain disease 11114
            movement disease 2509
              Dyskinesias 2137
                Hyperkinesis 38
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                  Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root