MYASTHENIC SYNDROME, CONGENITAL, 12
|
disease |
|
Disease or Syndrome
|
1
|
16
|
0.800 |
None |
1.000 |
8 |
16
|
2011 |
2017 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.700 |
limited |
1.000 |
13 |
2
|
2011 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.420 |
None |
1.000 |
2 |
|
2018 |
2019 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tubular aggregates
|
phenotype |
|
Cell or Molecular Dysfunction
|
2
|
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Congenital Myasthenic Syndromes, Postsynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myasthenic Syndromes, Congenital, Slow Channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Myasthenic Syndromes, Presynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
21
|
0.300 |
None |
|
0 |
|
|
|
Hyperlipidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
472
|
83
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hyperlipoproteinemias
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
7
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
1995 |
1995 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Myasthenias
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
3
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2018 |
body fat percentage (physical finding)
|
phenotype |
|
Finding
|
56
|
98
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Favorable response of weakness to acetylcholine esterase inhibitors
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Generalized weakness of limb muscles
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|