ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia
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Accession:DOID:543 term browser browse the term
Definition:An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Synonyms:exact_synonym: Adult Onset Idiopathic Torsion Dystonias;   Autosomal Dominant Familial Dystonia;   Autosomal Recessive Familial Dystonia;   Childhood Onset Dystonia;   Childhood Onset Dystonias;   Dystonia Disorder;   Dystonia Disorders;   Dystonic Disorder;   Dystonic Disorders;   Familial Dystonia;   Familial Dystonias;   Hereditary Dystonia;   Hereditary Dystonias;   Idiopathic Familial Dystonia;   Idiopathic Familial Dystonias;   Limb Dystonia;   Muscle Dystonia;   Primary Dystonia;   Primary Dystonias;   Pseudodystonia;   Pseudodystonias;   Psychogenic Dystonia;   Psychogenic Dystonias;   Secondary Dystonia;   Secondary Dystonias;   Sporadic Dystonia;   Sporadic Dystonias;   adult onset dystonias;   adult onset idiopathic focal dystonias;   adult-onset dystonia;   diurnal dystonia;   dystonic disease;   paroxysmal dystonia;   writer cramp;   writer's cramp;   writers cramp
 narrow_synonym: dystonia 1;   regression of motor development with severe dystonia and corresponding basal ganglia lesions
 related_synonym: Dystonia 1, torsion, modifier of
 primary_id: MESH:D004421;   MESH:D020821
 alt_id: DOID:9007625;   RDO:0000640;   RDO:0000641
 xref: OMIM:PS128100;   OMIM:PS128200
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:11554173
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:11554173
RGD:8554872
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
RGD:5133436
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11554173
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 JBrowse link 13 50,091,644 50,153,808 RGD:1599351
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688127
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:11554173
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:11554173
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:11554173
RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:11554173
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11554173
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:1601280
RGD:8554872
RGD:11554173
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:11554173
G Gnal G protein subunit alpha L JBrowse link 18 62,805,406 62,946,133 RGD:11554173
RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:11554173
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
G Penk proenkephalin JBrowse link 5 17,056,412 17,061,762 RGD:10003100
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:11554173
RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:11554173
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:11554173
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:11554173
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:1600054
RGD:8554872
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:11554173
RGD:8554872
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:1600152
RGD:13209134
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:11554173
RGD:8554872
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
autosomal recessive early-onset Parkinson's disease 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo7 F-box protein 7 JBrowse link 7 23,815,246 23,843,505 RGD:7240710
RGD:8554872
RGD:11554173
autosomal recessive Parkinson's disease 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
Benign Essential Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:7240710
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:734899
RGD:11554173
cervical dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147570
childhood onset GLUT1 deficiency syndrome 2 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
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
dystonia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:7240710
RGD:8554872
RGD:11055714
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:6482737
dystonia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp7 FKBP prolyl isomerase 7 JBrowse link 3 63,522,480 63,535,835 RGD:8554872
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Plekha3 pleckstrin homology domain containing A3 JBrowse link 3 63,536,166 63,557,378 RGD:8554872
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
dystonia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:7240710
RGD:8554872
dystonia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:7240710
RGD:8554872
dystonia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnal G protein subunit alpha L JBrowse link 18 62,805,406 62,946,133 RGD:7240710
RGD:8554872
dystonia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:7240710
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
DYSTONIA 28, CHILDHOOD-ONSET term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
RGD:7240710
dystonia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
RGD:11554173
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:8554872
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
Dystonia Musculorum Deformans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:634735
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 5 150,001,281 150,027,407 RGD:8554872
RGD:7240710
episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
RGD:11554173
RGD:7240710
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
focal dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:13592920
generalized dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
Hypermanganesemia with Dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a14 solute carrier family 39 member 14 JBrowse link 15 51,982,872 52,029,841 RGD:8554872
RGD:7240710
Juvenile-Onset Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:7240710
RGD:8554872
Marsden Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
myoclonic dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casd1 CAS1 domain containing 1 JBrowse link 4 29,638,280 29,693,151 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:8554872
G Kctd17 potassium channel tetramerization domain containing 17 JBrowse link 7 119,647,301 119,658,148 RGD:11554173
G Sgce sarcoglycan, epsilon JBrowse link 4 29,726,140 29,769,902 RGD:7240710
RGD:8554872
myoclonic dystonia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgce sarcoglycan, epsilon JBrowse link 4 29,726,140 29,769,902 RGD:13592920
myoclonic dystonia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd17 potassium channel tetramerization domain containing 17 JBrowse link 7 119,647,301 119,658,148 RGD:8554872
RGD:7240710
Parkinsonism-Dystonia, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:8554872
RGD:11554173
Parkinsonism-Dystonia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:7240710
Parkinsonism-Dystonia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc18a2 solute carrier family 18 member A2 JBrowse link 1 280,397,831 280,457,968 RGD:8554872
RGD:7240710
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:7240710
RGD:8554872
RGD:11554173
Segawa Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:7240710
RGD:8554872
RGD:11554173
sepiapterin reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:7240710
RGD:8554872
RGD:11554173
torsion dystonia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:7240710
RGD:8554872
torsion dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
RGD:7240710
torsion dystonia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:7240710
RGD:8554872
torsion dystonia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:7240710
RGD:8554872
RGD:11554173
torsion dystonia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:11554173
X-linked dystonia-parkinsonism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        Neurologic Manifestations 3384
          Dyskinesias 718
            dystonia 80
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 1
              DYSTONIA 28, CHILDHOOD-ONSET 1
              DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Hypermanganesemia with Dystonia 2 1
              Juvenile-Onset Dystonia 1
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Marsden Syndrome 4
              Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
              Mitochondrial Dystonia 0
              Parkinsonism-Dystonia, Infantile + 2
              Rolandic Epilepsy, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 0
              Segawa Syndrome, Autosomal Recessive 4
              autosomal recessive Parkinson's disease 14 1
              childhood onset GLUT1 deficiency syndrome 2 1
              deafness-dystonia-optic neuronopathy syndrome 1
              dystonia 12 2
              dystonia 16 5
              dystonia 21 0
              dystonia 27 4
              dystonia 5 2
              dystonia 9 1
              episodic kinesigenic dyskinesia 1 6
              episodic kinesigenic dyskinesia 2 0
              focal dystonia + 10
              generalized dystonia + 7
              multifocal dystonia + 6
              myoclonic dystonia + 5
              paroxysmal nonkinesigenic dyskinesia 1 1
              paroxysmal nonkinesigenic dyskinesia 2 0
              segmental dystonia + 4
              sepiapterin reductase deficiency 1
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                dystonia 80
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 1
                  DYSTONIA 28, CHILDHOOD-ONSET 1
                  DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Hypermanganesemia with Dystonia 2 1
                  Juvenile-Onset Dystonia 1
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
                  Marsden Syndrome 4
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Mitochondrial Dystonia 0
                  Parkinsonism-Dystonia, Infantile + 2
                  Rolandic Epilepsy, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 0
                  Segawa Syndrome, Autosomal Recessive 4
                  autosomal recessive Parkinson's disease 14 1
                  childhood onset GLUT1 deficiency syndrome 2 1
                  deafness-dystonia-optic neuronopathy syndrome 1
                  dystonia 12 2
                  dystonia 16 5
                  dystonia 21 0
                  dystonia 27 4
                  dystonia 5 2
                  dystonia 9 1
                  episodic kinesigenic dyskinesia 1 6
                  episodic kinesigenic dyskinesia 2 0
                  focal dystonia + 10
                  generalized dystonia + 7
                  multifocal dystonia + 6
                  myoclonic dystonia + 5
                  paroxysmal nonkinesigenic dyskinesia 1 1
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  segmental dystonia + 4
                  sepiapterin reductase deficiency 1
                  torsion dystonia 17 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.