Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2014 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
89
|
27
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.050 |
None |
1.000 |
5 |
|
2008 |
2019 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.320 |
None |
1.000 |
3 |
|
2005 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2019 |
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2019 |
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.700 |
None |
1.000 |
2 |
3
|
2008 |
2011 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Demyelinating Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Graves Disease
|
disease |
Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
585
|
352
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pneumocystis jiroveci pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
180
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Robinow syndrome, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
0.200 |
None |
|
0 |
|
|
|
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
143
|
6
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|