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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 chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094
JBrowse link
G ADCY8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr13:27,723,530...27,937,821
Ensembl chr13:27,723,530...27,937,734
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G CCK cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402
JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
JBrowse link
G DISC1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr 4:7,524,336...7,825,143
Ensembl chr 4:7,524,397...7,822,558
JBrowse link
G DRD1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
JBrowse link
G DRD3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
JBrowse link
G DRD4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr35:26,212,274...26,243,910
Ensembl chr35:26,213,076...26,237,572
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr36:7,544,637...7,554,171
Ensembl chr36:7,544,637...7,554,021
JBrowse link
G GIT1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr 9:43,676,707...43,686,566
Ensembl chr 9:43,677,899...43,693,177
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr15:54,634,332...54,710,711
Ensembl chr15:54,634,335...54,708,184
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:87,342,800...87,641,224
Ensembl chr  X:87,342,792...87,638,579
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G MAP6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr21:22,952,175...23,021,011
Ensembl chr21:22,952,797...23,020,868
JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996
JBrowse link
G NPS neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr28:36,488,430...36,492,524
Ensembl chr28:36,488,500...36,492,090
JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
JBrowse link
G NTS neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr15:27,361,002...27,372,232
Ensembl chr15:27,361,002...27,372,232
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
JBrowse link
G SNCG synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
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 chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616
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 chr28:10,890,654...10,921,898
Ensembl chr28:10,720,094...10,930,286
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 chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    Pathological Conditions, Signs and Symptoms 12321
      Signs and Symptoms 10316
        Neurologic Manifestations 9992
          Dyskinesias 2169
            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 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        central nervous system disease 12072
          brain disease 11337
            movement disease 2552
              Dyskinesias 2169
                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