Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.040 |
None |
1.000 |
4 |
|
2016 |
2019 |
Aromatic amino acid decarboxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deficiency of glutamate decarboxylase
|
disease |
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Deficiency of aromatic-L-amino-acid decarboxylase
|
disease |
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
EPILEPSY, PYRIDOXINE-DEPENDENT
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
26
|
0.510 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperprolinemia type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypophosphatasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
27
|
29
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deficiency of oxidase
|
disease |
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.100 |
None |
|
0 |
|
|
|
Clonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|