Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intrinsic pathway
|
phenotype |
Hemic and Lymphatic Diseases
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hemarthrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced factor IX activity
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged whole-blood clotting time
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Partial thromboplastin time increased (finding)
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Pathologic Function
|
122
|
24
|
0.100 |
None |
|
0 |
|
|
|
Persistent bleeding after trauma
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coumarin Resistance
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
10
|
0.300 |
None |
|
0 |
|
|
|
Abnormality of blood and blood-forming tissues
|
disease |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Color blindness
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
4
|
0.040 |
None |
0.750 |
4 |
|
1975 |
1994 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
1.000 |
definitive |
0.979 |
439 |
95
|
1976 |
2020 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
143
|
295
|
0.500 |
None |
0.934 |
136 |
9
|
1976 |
2020 |
Hemophilia, NOS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
82
|
8
|
0.100 |
None |
0.953 |
85 |
1
|
1976 |
2020 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Adult T-Cell Lymphoma/Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
540
|
11
|
0.060 |
None |
0.833 |
6 |
|
1983 |
1996 |
Hemorrhagic Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
30
|
3
|
0.050 |
None |
1.000 |
5 |
1
|
1983 |
2006 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.920 |
50 |
|
1984 |
2019 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.030 |
None |
1.000 |
3 |
|
1984 |
1985 |
Leukemia, T-Cell
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
457
|
10
|
0.020 |
None |
1.000 |
2 |
|
1984 |
1989 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.030 |
None |
1.000 |
3 |
|
1985 |
2018 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.020 |
None |
1.000 |
2 |
|
1985 |
1987 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.020 |
None |
1.000 |
2 |
|
1985 |
2015 |