Familial torsion dystonia
|
disease |
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
6 |
|
2005 |
2015 |
Motor symptoms
|
phenotype |
|
Sign or Symptom
|
100
|
15
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2008 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2000 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Executive dysfunction
|
disease |
|
Mental or Behavioral Dysfunction
|
33
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Psychogenic movement disorder
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
DYSTONIA 1, TORSION, LATE-ONSET
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
|
0 |
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.100 |
None |
|
0 |
|
|
|
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Early onset torsion dystonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
22
|
1
|
0.800 |
None |
0.986 |
70 |
1
|
1994 |
2020 |
Dystonia Musculorum Deformans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.400 |
None |
0.983 |
60 |
|
1990 |
2015 |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
4
|
0.900 |
None |
0.943 |
35 |
4
|
1994 |
2018 |
Dystonia 6, torsion (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
24
|
0.040 |
None |
0.750 |
4 |
|
2006 |
2012 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Gilles de la Tourette syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
177
|
63
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
14
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Colitis, Lymphocytic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2019 |