Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.550 |
limited |
1.000 |
6 |
|
2010 |
2017 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.410 |
None |
1.000 |
2 |
|
2010 |
2018 |
Gerstmann-Straussler-Scheinker Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
Disease or Syndrome
|
56
|
39
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Disorder of skeletal muscle
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lafora Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
92
|
32
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
cardiac symptom
|
phenotype |
|
Sign or Symptom
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Tumor Progression
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
3865
|
72
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Limb-girdle myopathy
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Massive Osteolyses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
44
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyocyte hypertrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abdominal wall muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 5.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|