Bernard-Soulier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
46
|
23
|
1.000 |
None |
1.000 |
31 |
7
|
1990 |
2020 |
Von Willebrand disease, platelet type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
2
|
0.800 |
strong |
1.000 |
19 |
2
|
1991 |
2019 |
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
None |
1.000 |
1 |
2
|
2001 |
2001 |
Neonatal Alloimmune Thrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
29
|
1
|
0.400 |
None |
|
0 |
|
|
|
Brooke-Spiegler syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
8
|
0.310 |
strong |
1.000 |
2 |
|
2011 |
2018 |
Thrombosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
98
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2007 |
FNAITP
|
disease |
|
Disease or Syndrome
|
12
|
2
|
0.310 |
None |
1.000 |
1 |
|
2013 |
2013 |
Thrombus
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
46
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Barber Say syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
21
|
4
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Deficiency of Platelet Glycoprotein 1b
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.140 |
None |
1.000 |
5 |
3
|
2012 |
2019 |
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.140 |
None |
1.000 |
5 |
2
|
2012 |
2019 |
Nonarteritic anterior ischemic optic neuropathy (NAION)
|
disease |
|
Disease or Syndrome
|
22
|
6
|
0.120 |
None |
1.000 |
2 |
|
2004 |
2019 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
3 |
3
|
2010 |
2016 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
2 |
2
|
2012 |
2016 |
Impaired ristocetin-induced platelet aggregation
|
phenotype |
|
Pathologic Function
|
6
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Platelet Component Distribution Width Measurement
|
phenotype |
|
Laboratory Procedure
|
134
|
200
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
stomatocytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Subarachnoid Hemorrhage
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
501
|
26
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|