DYSTONIA 27
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.720 |
strong |
1.000 |
4 |
7
|
2002 |
2018 |
Congenital hereditary muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Myosclerosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Distal joint laxity
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
3
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Increased laxity of fingers
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensibility at wrists
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased laxity of ankles
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced muscle collagen VI
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Axial dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Ullrich congenital muscular dystrophy
|
disease |
|
Disease or Syndrome
|
7
|
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2018 |
Muscle fiber necrosis
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Diaphragmatic paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Upper limb postural tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
74
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Nodular tenosynovitis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Increased endomysial connective tissue
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Fibrous histiocytoma of tendon sheath
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Oromandibular dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
BETHLEM MYOPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
108
|
0.800 |
strong |
1.000 |
29 |
37
|
1993 |
2018 |
Ullrich congenital muscular dystrophy 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
34
|
1.000 |
strong |
1.000 |
17 |
11
|
2002 |
2018 |
Laryngeal dystonia
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dystonia, Diurnal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
18
|
|
0.300 |
None |
|
0 |
|
|
|
Congenital torticollis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Congenital Abnormality
|
19
|
6
|
0.100 |
None |
|
0 |
|
|
|