EPILEPSY, PROGRESSIVE MYOCLONIC, 8
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
moderate |
1.000 |
2 |
2
|
2009 |
2014 |
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
|
0 |
|
|
|
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.300 |
None |
|
0 |
|
|
|
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.300 |
None |
|
0 |
|
|
|
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Heterotaxy Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
8
|
0.100 |
None |
1.000 |
3 |
3
|
2010 |
2017 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
Asplenia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
5
|
0.100 |
None |
|
0 |
3
|
|
|
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.100 |
None |
|
0 |
2
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.100 |
None |
|
0 |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Double Outlet Right Ventricle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
48
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.100 |
None |
|
0 |
3
|
|
|
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2012 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2012 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
disease |
|
Disease or Syndrome
|
46
|
15
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |