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ONTOLOGY REPORT - ANNOTATIONS


Term:Athetosis
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Accession:HP:0002305 term browser browse the term
Definition:A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Comment:Athetosis derives from the Greek word for 'changeable' or 'unfixed'.
Synonyms:exact_synonym: Athetoid movements;   Involuntary writhing movements;   Involuntary writhing movements in fingers, hands, toes, and feet
 alt_id: HP:0007167;   HP:0007316
 xref: MSH:D001264;   SNOMEDCT_US:44913001;   SNOMEDCT_US:58593005;   UMLS:C0004158;   UMLS:C1845265


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Athetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 41,468,756 41,528,979 RGD:8699517
G AUH AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 9 91,213,815 91,361,969 RGD:8699517
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,206,442 13,506,479 RGD:8699517
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 3 53,494,611 53,813,733 RGD:8699517
G CUX2 cut like homeobox 2 JBrowse link 12 111,034,165 111,350,556 RGD:8699517
G CYB5A cytochrome b5 type A JBrowse link 18 74,250,846 74,291,980 RGD:8699517
G CYB5R3 cytochrome b5 reductase 3 JBrowse link 22 42,617,840 42,649,392 RGD:8699517
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 1 219,968,600 220,046,505 RGD:8699517
G FOXG1 forkhead box G1 JBrowse link 14 28,766,787 28,770,277 RGD:8699517
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8699517
G GAMT guanidinoacetate N-methyltransferase JBrowse link 19 1,397,026 1,401,542 RGD:8699517
G GNAO1 G protein subunit alpha o1 JBrowse link 16 56,191,489 56,357,444 RGD:8699517
G HCFC1 host cell factor C1 JBrowse link X 153,947,556 153,972,360 RGD:8699517
G KCNA1 potassium voltage-gated channel subfamily A member 1 JBrowse link 12 4,909,905 4,918,256 RGD:8699517
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:8699517
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,643,267 15,726,353 RGD:8699517
G NGLY1 N-glycanase 1 JBrowse link 3 25,718,944 25,790,039 RGD:8699517
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G PDGFRB platelet derived growth factor receptor beta JBrowse link 5 150,113,839 150,155,845 RGD:8699517
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,934 119,744,218 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G PIGV phosphatidylinositol glycan anchor biosynthesis class V JBrowse link 1 26,787,054 26,800,659 RGD:8699517
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 29,812,193 29,815,920 RGD:8699517
G RNASET2 ribonuclease T2 JBrowse link 6 166,922,113 166,956,580 RGD:8699517
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 74,421,493 74,533,916 RGD:8699517
G SLC17A5 solute carrier family 17 member 5 JBrowse link 6 73,593,379 73,653,992 RGD:8699517
G SLC20A2 solute carrier family 20 member 2 JBrowse link 8 42,416,462 42,542,143 RGD:8699517
G SLC46A1 solute carrier family 46 member 1 JBrowse link 17 28,394,642 28,406,630 RGD:8699517
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 153,687,926 153,696,593 RGD:8699517
G SMPD1 sphingomyelin phosphodiesterase 1 JBrowse link 11 6,390,474 6,394,998 RGD:8699517
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 13 47,942,656 48,001,326 RGD:8699517
G TRAPPC11 trafficking protein particle complex 11 JBrowse link 4 183,659,267 183,713,594 RGD:8699517
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 RGD:8699517
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 3 132,654,446 132,679,786 RGD:8699517
G UBQLN2 ubiquilin 2 JBrowse link X 56,563,593 56,567,010 RGD:8699517
G UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII JBrowse link 5 132,866,642 132,868,847 RGD:8699517
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial JBrowse link 1 119,031,216 119,140,788 RGD:8699517

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  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the nervous system 3284
        Abnormality of nervous system physiology 3044
          Abnormality of movement 1739
            Involuntary movements 869
              Athetosis 37
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.