EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
|
disease |
|
Disease or Syndrome
|
1
|
14
|
0.600 |
strong |
1.000 |
3 |
14
|
2016 |
2016 |
Focal cortical dysplasia type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Hemoglobin A measurement
|
phenotype |
|
Laboratory Procedure
|
6
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hereditary bundle branch system defect
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy, Partial, with Variable Foci
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
24
|
0.510 |
None |
1.000 |
3 |
|
2016 |
2019 |
Mean corpuscular hemoglobin concentration determination
|
phenotype |
|
Laboratory Procedure
|
10
|
19
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Hb H disease
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
alpha^0^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Left Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hemimegalencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
39
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fetal hemoglobin determination
|
phenotype |
|
Laboratory Procedure
|
40
|
220
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Focal cortical dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
44
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2020 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.060 |
None |
1.000 |
6 |
|
2016 |
2020 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Macular dystrophy, corneal type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
100
|
54
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Fleck corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
104
|
12
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2020 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hemoglobin measurement
|
phenotype |
|
Laboratory Procedure
|
131
|
224
|
0.100 |
None |
1.000 |
2 |
2
|
2013 |
2015 |
Thalassemia
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
136
|
18
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
4 |
4
|
2013 |
2018 |