Excessive daytime somnolence
|
phenotype |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperuricemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
196
|
76
|
0.100 |
None |
|
0 |
|
|
|
Hyperbilirubinemia, Neonatal
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
33
|
15
|
0.100 |
None |
|
0 |
|
|
|
Neonatal hypoglycemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
55
|
13
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Tachycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
73
|
8
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Intermittent hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
Somnolence
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Mental or Behavioral Dysfunction
|
87
|
8
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
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 |
|
|
|
Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Apneic episodes in infancy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
6
|
2
|
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 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Drowsiness
|
phenotype |
Mental Disorders
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased urinary glycerol
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.100 |
None |
|
0 |
|
|
|