LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
moderate |
1.000 |
4 |
6
|
2006 |
2016 |
Myopathy with Abnormal Lipid Metabolism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
None |
|
0 |
|
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
45
|
0.150 |
None |
1.000 |
5 |
8
|
2016 |
2019 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Organic aciduria
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Fatty replacement of skeletal muscle
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.060 |
None |
1.000 |
6 |
|
2008 |
2018 |
Coronary Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1282
|
440
|
0.050 |
None |
1.000 |
5 |
|
2008 |
2018 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.050 |
None |
1.000 |
5 |
|
2008 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.040 |
None |
0.750 |
4 |
|
2015 |
2018 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2015 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2014 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.030 |
None |
1.000 |
3 |
|
1994 |
2016 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
Dyslipidemias
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
471
|
184
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2015 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Ischemic stroke
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1159
|
704
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |