Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Myoclonic dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
29
|
1.000 |
None |
0.956 |
90 |
26
|
2000 |
2019 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.100 |
None |
1.000 |
12 |
|
2004 |
2018 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.090 |
None |
1.000 |
9 |
|
2003 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.070 |
None |
1.000 |
7 |
|
2002 |
2019 |
Organic writer's cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.030 |
None |
0.667 |
3 |
|
2008 |
2009 |
Writer's Cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
3
|
0.130 |
None |
0.667 |
3 |
|
2008 |
2009 |
Cerebellar Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
66
|
4
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2013 |
Dystonia Musculorum Deformans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.200 |
None |
1.000 |
2 |
|
2005 |
2012 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2014 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2017 |
Gilles de la Tourette syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
177
|
63
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2007 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Idiopathic familial dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
1.000 |
2 |
|
2005 |
2012 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.020 |
None |
0.500 |
2 |
|
2004 |
2007 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2013 |
Dopa-Responsive Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
33
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Familial torsion dystonia
|
disease |
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
2 |
|
2005 |
2012 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
117
|
50
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Osteochondritis Dissecans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Benign Hereditary Chorea
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
13
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |