Partial thromboplastin time increased (finding)
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hemarthrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged whole-blood clotting time
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Pathologic Function
|
122
|
24
|
0.100 |
None |
|
0 |
|
|
|
Reduced factor IX activity
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intrinsic pathway
|
phenotype |
Hemic and Lymphatic Diseases
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Persistent bleeding after trauma
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
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 |
|
|
|
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 |
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 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
< 0.001 |
1 |
|
1985 |
1985 |
Acquired Immunodeficiency Syndrome
|
group |
Infections; Immune System Diseases
|
Disease or Syndrome
|
243
|
42
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Hereditary factor IX deficiency disease without inhibitor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
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 |
Mucopolysaccharidosis II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
69
|
0.020 |
None |
1.000 |
2 |
|
1986 |
1987 |
Mobius Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
28
|
2
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Leukemia, T-Cell
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
457
|
10
|
0.020 |
None |
1.000 |
2 |
|
1984 |
1989 |
bone destruction
|
disease |
|
Disease or Syndrome
|
234
|
3
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
FRAXA Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |