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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscle Hypertonia
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Accession:DOID:9008941 term browser browse the term
Definition:Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.
Synonyms:exact_synonym: Detrusor Muscle Hypertonia;   Detrusor Muscle Hypertonias;   Hypermyotonia;   Hypermyotonias;   Infantile Hypertonia;   Infantile Hypertonias;   Muscle Hypertonias;   Muscle Tone Increased;   Muscular Hypertonicities;   Muscular Hypertonicity;   Neonatal Hypertonia;   Neonatal Hypertonias;   Sphincter Hypertonia;   Sphincter Hypertonias;   Transient Hypertonia;   Transient Hypertonias
 narrow_synonym: EFS;   episodic falling syndrome;   paroxysmal hypertonicity disorder
 primary_id: MESH:D009122;   RDO:0006156
 alt_id: OMIA:001592
For additional species annotation, visit the Alliance of Genome Resources.


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Muscle Hypertonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oxt oxytocin/neurophysin I prepropeptide JBrowse link 3 123,106,694 123,107,534 RGD:11554173
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:11554173
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:7240710
RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
RGD:12879478
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
hyperekplexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:8554872
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:8554872
RGD:11554173
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:8554872
RGD:11554173
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:11554173
RGD:8554872
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:8554872
RGD:11554173
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:7240710
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:13592920
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:7240710
RGD:8554872
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:7240710
RGD:8554872
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
RGD:7240710
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
Muscle Rigidity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11554173
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:11554173
RGD:8554872
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:11554173
G Nts neurotensin JBrowse link 7 44,111,594 44,120,998 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
Muscle Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adra2a adrenoceptor alpha 2A JBrowse link 1 274,766,283 274,769,083 RGD:6480106
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:8554872
G Ephb1 Eph receptor B1 JBrowse link 8 110,376,954 110,813,193 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 JBrowse link 13 89,661,763 89,668,513 RGD:8554872
RGD:7240710
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11532672
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 1 211,922,389 211,923,929 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chp1 calcineurin-like EF-hand protein 1 JBrowse link 3 111,354,506 111,389,998 RGD:7240710
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Signs and Symptoms 4688
        Neurologic Manifestations 3589
          Neuromuscular Manifestations 320
            Muscle Hypertonia 48
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Lethal Muscular Hypertonia 0
              Muscle Rigidity + 15
              Muscle Spasticity + 28
              myofibrillar myopathy 7 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.