Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Familial hypercholesterolemia - homozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
72
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Supravalvular aortic stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
38
|
0.100 |
None |
|
0 |
|
|
|
Low density lipoprotein increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
23
|
318
|
0.100 |
None |
|
0 |
|
|
|
Dyslipoproteinemias
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hyperlipoproteinemia Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
16
|
0.100 |
None |
|
0 |
|
|
|
Storage disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.330 |
None |
1.000 |
4 |
|
2001 |
2019 |
Heart murmur
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
10
|
0.100 |
None |
|
0 |
|
|
|
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Atherosclerosis of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2004 |
2004 |
Renal Artery Stenosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Gilbert Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
29
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Reticulocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gall Bladder Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
42
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Familial hypercholesterolemia - heterozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
42
|
34
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Massive Osteolyses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
44
|
11
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Biliary calculi
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Body Substance
|
48
|
31
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
124
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hyperlipoproteinemias
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
7
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cholesterol gallstones
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
51
|
12
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2017 |
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 |
1
|
2012 |
2012 |
Blood Platelet Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Atherogenesis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |