POLYGLUCOSAN BODY MYOPATHY 2
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.710 |
strong |
1.000 |
9 |
7
|
2010 |
2018 |
GLYCOGEN STORAGE DISEASE XV
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.710 |
None |
1.000 |
7 |
3
|
2010 |
2020 |
Increased mitochondrial number
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle glycogen content
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle myopathy
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyocyte hypertrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Inverted T wave
|
phenotype |
Cardiovascular Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular septal hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
3
|
0.100 |
None |
|
0 |
|
|
|
cardiac symptom
|
phenotype |
|
Sign or Symptom
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abdominal wall muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 3.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Arrhythmia, CTCAE 5.0
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
ST segment elevation (finding)
|
phenotype |
Cardiovascular Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Disorder of skeletal muscle
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Right bundle branch block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Massive Osteolyses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
44
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
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 |
Ventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
9
|
0.100 |
None |
|
0 |
|
|
|
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 |