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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_004624740:6,915,445...7,003,299
Ensembl chrNW_004624740:6,922,879...7,003,658
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chrNW_004624735:24,891,803...25,149,817
Ensembl chrNW_004624735:24,891,583...25,149,900
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chrNW_004624747:9,846,254...9,860,938
Ensembl chrNW_004624747:9,851,153...9,860,094
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519
JBrowse link
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chrNW_004624766:6,764,388...6,771,396
Ensembl chrNW_004624766:6,766,185...6,768,173
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chrNW_004624730:77,310,080...77,314,258
Ensembl chrNW_004624730:77,309,633...77,314,384
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223
JBrowse link
G Disc1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chrNW_004624775:17,820,590...18,165,640
Ensembl chrNW_004624775:17,831,272...18,165,668
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chrNW_004624733:14,517,540...14,522,173
Ensembl chrNW_004624733:14,518,146...14,520,905
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
JBrowse link
G Drd4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chrNW_004624766:21,834,093...21,837,314
Ensembl chrNW_004624766:21,834,169...21,836,710
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chrNW_004624754:25,425,208...25,452,600
Ensembl chrNW_004624754:25,425,055...25,455,656
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chrNW_004624732:3,361,897...3,370,020
Ensembl chrNW_004624732:3,362,234...3,370,536
JBrowse link
G Git1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chrNW_004624786:2,071,376...2,086,929
Ensembl chrNW_004624786:2,071,382...2,086,910
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chrNW_004624733:35,337,039...35,648,184
Ensembl chrNW_004624733:35,339,683...35,647,349
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chrNW_004624848:1,132,939...1,261,110
Ensembl chrNW_004624848:1,135,032...1,261,087
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chrNW_004624940:1,040,744...1,299,266
Ensembl chrNW_004624940:1,040,911...1,157,057
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chrNW_004624737:1,960,985...2,067,086
Ensembl chrNW_004624737:1,960,057...2,067,038
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
JBrowse link
G Map6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chrNW_004624817:1,489,020...1,554,398 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017
JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chrNW_004624843:4,869,278...4,873,444
Ensembl chrNW_004624843:4,869,614...4,873,448
JBrowse link
G Nps neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chrNW_004624737:19,447,495...19,451,005 JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chrNW_004624809:8,274,736...8,622,287
Ensembl chrNW_004624809:8,276,951...8,616,765
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chrNW_004624837:5,035,237...5,045,560
Ensembl chrNW_004624837:5,035,159...5,045,651
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chrNW_004624741:4,200,594...4,201,416
Ensembl chrNW_004624741:4,200,478...4,201,580
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chrNW_004624751:694,165...720,287
Ensembl chrNW_004624751:694,099...719,465
JBrowse link
G Sncg synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chrNW_004624841:192,396...196,568
Ensembl chrNW_004624841:192,398...196,064
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chrNW_004624767:15,003,073...15,010,207
Ensembl chrNW_004624767:15,003,092...15,010,154
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_004624785:13,208,518...13,885,261
Ensembl chrNW_004624785:13,497,495...13,880,345
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_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462
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_004624737:9,271,519...9,309,843
Ensembl chrNW_004624737:9,271,546...9,308,180
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_004624823:6,397,211...6,417,671 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Pathological Conditions, Signs and Symptoms 11246
      Signs and Symptoms 9467
        Neurologic Manifestations 9170
          Dyskinesias 2035
            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 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            movement disease 2382
              Dyskinesias 2035
                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