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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_004936478:20,310,509...20,477,506
Ensembl chrNW_004936478:20,310,503...20,456,141
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chrNW_004936470:17,831,644...18,047,868
Ensembl chrNW_004936470:17,831,639...18,047,868
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chrNW_004936707:1,784,338...1,913,401
Ensembl chrNW_004936707:1,854,444...1,913,460
JBrowse link
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chrNW_004936695:2,776,705...2,782,280
Ensembl chrNW_004936695:2,776,831...2,782,061
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chrNW_004936527:2,859,442...4,748,885
Ensembl chrNW_004936527:2,859,930...4,746,995
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689
JBrowse link
G Disc1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chrNW_004936484:19,151,752...19,237,435
Ensembl chrNW_004936484:19,047,215...19,237,306
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chrNW_004936609:790,647...795,187
Ensembl chrNW_004936609:792,276...793,613
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chrNW_004936536:1,580,732...1,616,726
Ensembl chrNW_004936536:1,580,732...1,616,725
JBrowse link
G Drd4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chrNW_004936888:468,334...471,254
Ensembl chrNW_004936888:468,403...471,205
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chrNW_004936723:1,108,105...1,137,602
Ensembl chrNW_004936723:1,107,995...1,137,178
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chrNW_004936469:16,906,658...16,916,045
Ensembl chrNW_004936469:16,906,658...16,916,045
JBrowse link
G Git1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chrNW_004936538:5,684,660...5,694,779
Ensembl chrNW_004936538:5,684,644...5,695,043
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chrNW_004936515:8,937,391...9,236,438
Ensembl chrNW_004936515:8,940,009...9,083,151
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chrNW_004936576:3,800,369...3,940,324
Ensembl chrNW_004936576:3,800,075...3,941,003
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chrNW_004936565:335,238...394,683
Ensembl chrNW_004936565:334,393...394,715
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chrNW_004936499:1,002,083...1,109,446
Ensembl chrNW_004936499:1,004,732...1,109,377
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chrNW_004936601:3,569,626...3,626,782
Ensembl chrNW_004936601:3,569,544...3,626,797
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
JBrowse link
G Map6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chrNW_004936498:4,360,190...4,439,219 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364
JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chrNW_004936525:5,092,675...5,099,344
Ensembl chrNW_004936525:5,092,635...5,099,331
JBrowse link
G Nps neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chrNW_004936486:15,172,068...15,175,568
Ensembl chrNW_004936486:15,172,256...15,175,339
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chrNW_004936478:1,289,437...1,296,819
Ensembl chrNW_004936478:1,290,505...1,296,874
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chrNW_004936507:3,318,982...3,329,248
Ensembl chrNW_004936507:3,318,915...3,329,342
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chrNW_004936815:359,775...400,690
Ensembl chrNW_004936815:359,775...400,690
JBrowse link
G Sncg synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chrNW_004936804:16,869...21,684
Ensembl chrNW_004936804:16,614...21,969
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chrNW_004936794:478,651...486,887
Ensembl chrNW_004936794:478,614...487,061
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_004936489:15,401,248...15,671,594
Ensembl chrNW_004936489:15,400,629...15,671,600
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 chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946
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_004936636:2,054,672...2,083,580
Ensembl chrNW_004936636:2,053,826...2,083,633
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_004936569:1,084,981...1,103,932 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9735
        Neurologic Manifestations 9422
          Dyskinesias 2070
            Hyperkinesis 37
              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 14638
    disease of anatomical entity 14327
      nervous system disease 12611
        central nervous system disease 11273
          brain disease 10581
            movement disease 2426
              Dyskinesias 2070
                Hyperkinesis 37
                  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