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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 chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr15:64,570,884...64,794,145
Ensembl chr15:64,568,933...64,794,145
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
JBrowse link
G Disc1 disrupted in schizophrenia 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr 8:125,773,928...125,991,882
Ensembl chr 8:125,780,934...125,988,597
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
JBrowse link
G Drd4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:12459514 PMID:11967637 RGD:401960114, RGD:401960108 NCBI chr 7:140,871,931...140,874,868
Ensembl chr 7:140,871,919...140,876,377
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr17:37,356,888...37,385,197
Ensembl chr17:37,356,858...37,385,959
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
JBrowse link
G Git1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612
JBrowse link
G Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070
JBrowse link
G Gria2 glutamate receptor, ionotropic, AMPA2 (alpha 2) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 3:80,588,757...80,711,534
Ensembl chr 3:80,588,757...80,710,142
JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
JBrowse link
G Htr2c 5-hydroxytryptamine (serotonin) receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:145,745,509...145,980,273
Ensembl chr  X:145,745,509...145,980,273
JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 IMP RGD PMID:18332680 RGD:6482186 NCBI chr19:35,935,815...36,035,533
Ensembl chr19:35,936,134...36,034,907
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Map6 microtubule-associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr 7:98,916,270...98,986,344
Ensembl chr 7:98,916,654...98,986,344
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Nppc natriuretic peptide type C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293
JBrowse link
G Nps neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr 7:134,870,348...134,874,671
Ensembl chr 7:134,860,432...134,874,671
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr10:102,317,617...102,326,294
Ensembl chr10:102,317,617...102,326,347
JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974
JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
JBrowse link
G Sncg synuclein, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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 chr17:8,742,719...9,205,480
Ensembl chr17:8,744,204...9,205,480
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 chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108
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 chr19:42,078,590...42,110,657
Ensembl chr19:42,078,909...42,110,526
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 Zfp142 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 chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    Pathological Conditions, Signs and Symptoms 12657
      Signs and Symptoms 10544
        Neurologic Manifestations 10201
          Dyskinesias 2217
            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 16273
    disease of anatomical entity 15866
      nervous system disease 13800
        central nervous system disease 12316
          brain disease 11558
            movement disease 2612
              Dyskinesias 2217
                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