Numerous pigmented freckles
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Giant Platelet Count (procedure)
|
phenotype |
|
Laboratory Procedure
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil inclusion bodies
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal platelet shape
|
disease |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal thrombosis
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
11 |
2
|
2008 |
2016 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Deep Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
230
|
93
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Secondary hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Portal Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
59
|
8
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Varicose veins of lower extremity
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Autosomal dominant macrothrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2001 |
Capillary malformation (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2003 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2012 |
Hereditary nephritis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Alport Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Hemorrhagic hereditary nephritis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bernard-Soulier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
46
|
23
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2010 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Sickle Cell Trait
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
75
|
16
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Thalassemia
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
136
|
18
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |