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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 chrNW_004955456:6,833,992...6,930,990
Ensembl chrNW_004955456:6,841,637...6,930,990
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chrNW_004955461:5,497,708...5,725,574
Ensembl chrNW_004955461:5,497,628...5,725,574
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chrNW_004955455:7,886,720...7,906,214
Ensembl chrNW_004955455:7,895,974...7,906,505
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825
JBrowse link
G Disc1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chrNW_004955492:6,946,528...7,239,328
Ensembl chrNW_004955492:6,953,389...7,239,328
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
JBrowse link
G Drd4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chrNW_004955583:85,255...115,140
Ensembl chrNW_004955583:85,255...115,189
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
JBrowse link
G Git1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chrNW_004955481:3,671,728...3,681,279
Ensembl chrNW_004955481:3,670,111...3,685,051
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chrNW_004955471:9,970,396...10,108,871
Ensembl chrNW_004955471:9,970,403...10,108,898
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chrNW_004955490:912,615...1,126,347
Ensembl chrNW_004955490:910,415...1,126,373
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chrNW_004955425:2,321,420...2,420,420
Ensembl chrNW_004955425:2,321,420...2,420,530
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Map6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chrNW_004955414:16,203,930...16,275,798 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chrNW_004955405:23,696,258...23,758,487
Ensembl chrNW_004955405:23,748,280...23,758,529
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630
JBrowse link
G Sncg synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
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 chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
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 chrNW_004955507:3,729,947...3,761,703
Ensembl chrNW_004955507:3,730,071...3,756,880
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 chrNW_004955453:14,766,665...14,786,403 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Pathological Conditions, Signs and Symptoms 11318
      Signs and Symptoms 9516
        Neurologic Manifestations 9210
          Dyskinesias 2042
            Hyperkinesis 34
              Infantile-Onset Limb and Orofacial Dyskinesia 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 0
              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 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        central nervous system disease 11072
          brain disease 10390
            movement disease 2391
              Dyskinesias 2042
                Hyperkinesis 34
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 0
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                  Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root