Frontal cortical atrophy
|
disease |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
16 |
1
|
2008 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.600 |
definitive |
0.981 |
54 |
1
|
2008 |
2019 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
44
|
0.720 |
strong |
1.000 |
23 |
44
|
1990 |
2017 |
Infantile Severe Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
63
|
32
|
0.400 |
None |
0.923 |
13 |
1
|
2009 |
2018 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
57
|
43
|
0.100 |
None |
0.909 |
11 |
1
|
2009 |
2018 |
Epileptic Syndromes
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
2
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2018 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.050 |
None |
1.000 |
5 |
|
2015 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.130 |
None |
1.000 |
3 |
|
2012 |
2018 |
Afebrile seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2011 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2011 |
Febrile infection related epilepsy syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
88
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
81
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Familial Epilepsies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |