FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital hypofibrinogenemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
10
|
0.740 |
strong |
1.000 |
9 |
3
|
2000 |
2018 |
Dysfibrinogenemia, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
8
|
0.610 |
strong |
1.000 |
7 |
5
|
1986 |
2018 |
Complement Factor I (C3 inactivator) deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
6
|
12
|
0.100 |
None |
|
0 |
3
|
|
|
Hypodysfibrinogenemia
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.440 |
strong |
1.000 |
4 |
1
|
2015 |
2019 |
Afibrinogenemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
|
0.530 |
None |
1.000 |
5 |
|
2000 |
2004 |
Intermenstrual heavy bleeding
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Sign or Symptom
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dysfibrinogenemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
13
|
6
|
0.060 |
None |
1.000 |
6 |
1
|
2000 |
2017 |
fibrinogen activity
|
phenotype |
|
Molecular Function
|
26
|
63
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Fibrinogen, CTCAE
|
phenotype |
|
Finding
|
26
|
63
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
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 |
1
|
2015 |
2015 |
Left ventricular diastolic dysfunction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Glycine measurement
|
phenotype |
|
Laboratory Procedure
|
32
|
68
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Joint swelling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Injury of liver
|
disease |
Digestive System Diseases; Wounds and Injuries
|
Injury or Poisoning
|
36
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Activated Protein C Resistance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
41
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Protein C Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fibrinogen assay
|
phenotype |
|
Laboratory Procedure
|
55
|
143
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2016 |
Fibrinogen Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
56
|
4
|
0.700 |
strong |
1.000 |
10 |
1
|
2005 |
2018 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypofibrinogenemia
|
disease |
|
Disease or Syndrome
|
60
|
14
|
0.190 |
None |
1.000 |
10 |
4
|
2005 |
2019 |
Thrombotic Microangiopathies
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
62
|
8
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
|
|
|