Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
2 |
|
2015 |
2018 |
HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Atheroeruptive xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperchylomicronemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperlipoproteinemia Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
3
|
0.720 |
strong |
1.000 |
5 |
2
|
2005 |
2018 |
Childhood Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Infant Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adolescent Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital stenosis of aortic valve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Familial hyperchylomicronemia syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Infantile Obesity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Serum triglycerides increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Increased VLDL cholesterol concentration
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hypo HDL cholesterolaemia
|
disease |
|
Disease or Syndrome
|
6
|
5
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hypotriglyceridemia
|
disease |
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Decreased LDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Precocious atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperlipoproteinemia Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.610 |
strong |
1.000 |
3 |
1
|
2005 |
2016 |
Decreased HDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis lenticularis perstans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
18
|
11
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adolescent Obesity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
9
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Insulin-resistant diabetes mellitus
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Nuchal bleb, familial
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
24
|
9
|
0.030 |
None |
1.000 |
3 |
5
|
2007 |
2015 |
Lipids measurement
|
group |
|
Laboratory Procedure
|
27
|
53
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Hyperlipoproteinemia Type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
24
|
0.330 |
None |
1.000 |
3 |
|
2005 |
2011 |