X-Linked Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
33
|
0.800 |
None |
1.000 |
42 |
20
|
1994 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.500 |
None |
0.909 |
11 |
4
|
1998 |
2019 |
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.400 |
None |
0.950 |
80 |
1
|
1991 |
2019 |
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
|
0.310 |
None |
1.000 |
1 |
|
2001 |
2001 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.150 |
None |
1.000 |
5 |
|
2001 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.130 |
None |
1.000 |
3 |
2
|
2008 |
2019 |
Lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
226
|
28
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2003 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.120 |
None |
1.000 |
12 |
3
|
1975 |
2007 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2017 |
Anastomosis
|
disease |
|
Acquired Abnormality
|
155
|
2
|
0.100 |
None |
1.000 |
18 |
|
2017 |
2019 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.100 |
None |
1.000 |
10 |
|
1998 |
2019 |
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
1.000 |
2 |
2
|
1995 |
1999 |
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
1999 |
1999 |
Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
19
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ventricular escape rhythm
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Atrial arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Vocal Cord Paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|