THROMBOPHILIA DUE TO THROMBIN DEFECT
|
phenotype |
|
Finding
|
4
|
2
|
0.300 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperhomocystinemia
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
178
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
11
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Delusions
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
62
|
15
|
0.100 |
None |
|
0 |
|
|
|
Social and occupational deterioration
|
phenotype |
Mental Disorders
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent thrombophlebitis
|
phenotype |
Cardiovascular Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Abnormal coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
4
|
0.100 |
None |
|
0 |
|
|
|
Negativism
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Addison Disease
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
111
|
13
|
0.100 |
None |
|
0 |
|
|
|
Neural tube defect, folate-sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.500 |
None |
1.000 |
1 |
|
2001 |
2001 |
Pulmonary Embolism
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Pathologic Function
|
93
|
16
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
|
disease |
|
Finding
|
1
|
6
|
0.400 |
strong |
1.000 |
1 |
6
|
2016 |
2016 |
Affective Disorders, Psychotic
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
17
|
10
|
0.310 |
None |
1.000 |
1 |
|
2005 |
2005 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.310 |
None |
1.000 |
1 |
4
|
2009 |
2009 |
Spinal Cord Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
84
|
3
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Thyrotoxicosis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
37
|
7
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Acute Confusional Senile Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
99
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |