ONTOLOGY REPORT - ANNOTATIONS

Term:Huntington Disease
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Accession:RDO:0002347 term browser browse the term
Definition:A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Synonyms:exact_synonym: Akinetic Rigid Variant of Huntington Disease;   HD;   Huntington Chorea;   Huntington Chronic Progressive Hereditary Chorea;   Huntington Disease, Akinetic Rigid Variant;   Huntington's Chorea;   Huntington's Disease;   Juvenile Huntington Disease;   Juvenile Onset Huntington Disease;   Late Onset Huntington Disease
 primary_id: MESH:D006816
 alt_id: OMIM:143100

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Huntington Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ache acetylcholinesterase ISS RGD:5688127 RGD
G Adipoq adiponectin, C1Q and collagen domain containing GBrowse link ISS 11 79,908,291 79,911,065 RGD:5686822 RGD
G Apoa4 apolipoprotein A-IV GBrowse link ISS 8 49,233,142 49,233,431 RGD:5147768 RGD
G Bche butyrylcholinesterase GBrowse link ISS 2 164,329,613 164,427,994 RGD:5688127 RGD
G Casp3 caspase 3 GBrowse link ISS 16 48,944,226 48,962,420 RGD:734693 RGD
G Casp8 caspase 8 GBrowse link ISS 9 57,389,353 57,437,803 RGD:734695 RGD
G Cat catalase GBrowse link IEP 3 88,654,077 88,686,212 RGD:5130752 RGD
G Chat choline O-acetyltransferase GBrowse link ISS 16 7,913,026 7,965,985 RGD:5686805 RGD
G Cnr2 cannabinoid receptor 2 (macrophage) GBrowse link IED 5 154,674,754 154,702,552 RGD:2316196 RGD
G Cnr2 cannabinoid receptor 2 (macrophage) GBrowse link ISS 5 154,674,754 154,702,552 RGD:2316196 RGD
G Cntf ciliary neurotrophic factor GBrowse link IED 1 215,842,668 215,844,691 RGD:628474 RGD
G Cntf ciliary neurotrophic factor GBrowse link ISS 1 215,842,668 215,844,691 RGD:734795 RGD
G Creb1 cAMP responsive element binding protein 1 GBrowse link ISS 9 63,170,785 63,234,727 RGD:734817 RGD
G Ctsh cathepsin H GBrowse link ISS 8 94,971,689 94,990,434 RGD:5686393 RGD
G Drd1 dopamine receptor D1 GBrowse link ISS 17 16,655,926 16,658,161 RGD:5686414 RGD
G Drd1 dopamine receptor D1 GBrowse link IEP 17 16,655,926 16,658,161 RGD:2302117 RGD
G Drd2 dopamine receptor D2 GBrowse link ISS 8 52,641,160 52,707,749 RGD:5686414 RGD
G Drd3 dopamine receptor D3 GBrowse link ISS 11 58,446,901 58,520,589 RGD:5686414 RGD
G Drd5 dopamine receptor D5 GBrowse link ISS 14 77,768,060 77,769,487 RGD:5686414 RGD
G E2f1 E2F transcription factor 1 GBrowse link IEP 3 145,032,489 145,043,729 RGD:2316262 RGD
G F2 coagulation factor II GBrowse link ISS 3 76,005,318 76,018,603 RGD:5147768 RGD
G Git1 G protein-coupled receptor kinase interacting ArfGAP 1 GBrowse link ISS 10 66,610,282 66,618,919 RGD:1549448 RGD
G Gja1 gap junction protein, alpha 1 GBrowse link ISS 20 35,409,815 35,422,262 RGD:7207854 RGD
G Grik2 glutamate receptor, ionotropic, kainate 2 GBrowse link ISS 20 53,231,473 53,713,131 RGD:1358638 RGD
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase GBrowse link ISS 2 27,127,504 27,149,580 RGD:5508462 RGD
G Hnmt histamine N-methyltransferase GBrowse link ISS 3 2,057,938 2,089,955 RGD:5509774 RGD
G Hspa8 heat shock 70kDa protein 8 GBrowse link ISS 8 43,784,035 43,787,760 RGD:5688778 RGD
G Htra2 HtrA serine peptidase 2 GBrowse link ISS 4 117,262,206 117,265,368 RGD:5688723 RGD
G Htt huntingtin GBrowse link IPM 14 81,490,322 81,636,856 RGD:6902915 RGD
G Htt huntingtin GBrowse link ISS 14 81,490,322 81,636,856 RGD:1302537 RGD
G Htt huntingtin GBrowse link ISS 14 81,490,322 81,636,856 RGD:7240710 OMIM
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 GBrowse link ISS 4 143,705,360 144,030,051 RGD:6480875 RGD
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 GBrowse link ISS 4 143,705,360 144,030,051 RGD:6480685 RGD
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 GBrowse link IEP 4 143,705,360 144,030,051 RGD:6483009 RGD
G Kalrn kalirin, RhoGEF kinase GBrowse link TAS 11 68,124,348 68,611,336 RGD:728800 RGD
G L1cam L1 cell adhesion molecule GBrowse link ISS X 159,784,792 159,801,553 RGD:6483035 RGD
G Lep leptin GBrowse link IEP 4 55,943,837 55,945,938 RGD:5128676 RGD
G Map2 microtubule-associated protein 2 GBrowse link ISS 9 65,174,376 65,256,003 RGD:6483090 RGD
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 GBrowse link IPM MT 9,451 9,798 RGD:5687693 RGD
G Ncor1 nuclear receptor co-repressor 1 GBrowse link ISS 10 48,481,110 48,628,538 RGD:5688338 RGD
G Optn optineurin GBrowse link ISS 17 84,298,122 84,348,330 RGD:6480499 RGD
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link ISS 14 64,278,115 64,370,912 RGD:7242018 RGD
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link ISS 14 64,278,115 64,370,912 RGD:7242018 RGD
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link ISS 14 64,278,115 64,370,912 RGD:6484269 RGD
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link ISS 14 64,278,115 64,370,912 RGD:6484259 RGD
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isozyme GBrowse link ISS 2 234,130,176 234,409,232 RGD:6483320 RGD
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit GBrowse link ISS 2 54,327,821 54,360,462 RGD:6484534 RGD
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit GBrowse link ISS 2 54,327,821 54,360,462 RGD:6484534 RGD
G Psmb9 proteasome (prosome, macropain) subunit, beta type, 9 GBrowse link ISS 20 4,801,187 4,806,608 RGD:6483364 RGD
G Ptgs2 prostaglandin-endoperoxide synthase 2 GBrowse link IPM 13 64,427,288 64,432,978 RGD:5508227 RGD
G Slc18a3 solute carrier family 18 (vesicular acetylcholine), member 3 GBrowse link ISS 16 7,969,738 7,972,599 RGD:5686805 RGD
G Tbp TATA box binding protein GBrowse link Severity ISS 1 54,390,756 54,407,563 RGD:5684339 RGD
G Tfam transcription factor A, mitochondrial GBrowse link ISS 20 18,100,629 18,112,682 RGD:6770890 RGD
G Tfam transcription factor A, mitochondrial GBrowse link ISS 20 18,100,629 18,112,682 RGD:6771173 RGD
G Timp2 TIMP metallopeptidase inhibitor 2 GBrowse link ISS 10 108,310,473 108,358,821 RGD:1580169 RGD
Huntington Disease-Like 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prnp prion protein GBrowse link ISS 3 119,676,137 119,691,507 RGD:7240710 OMIM
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Path 1
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  Diseases 30711
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3912
      Genetic Diseases, Inborn 2880
        Heredodegenerative Disorders, Nervous System 495
          Huntington Disease 56
            Huntington Disease-Like 1 1
            Huntington Disease-Like 3 0
            Westphal disease 0
Path 2
Term Annotations click to browse term
  Diseases 30711
    Pathological Conditions, Signs and Symptoms 5181
      Signs and Symptoms 2361
        Neurologic Manifestations 1274
          Dyskinesias 232
            Chorea 73
              Huntington Disease 56
                Huntington Disease-Like 1 1
                Huntington Disease-Like 3 0
                Westphal disease 0
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