Deficiency, Hexosediphosphatase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Fructose-1,6-Diphosphatase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
18
|
0.730 |
None |
1.000 |
12 |
18
|
1995 |
2018 |
Intermittent hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Increased urinary glycerol
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Reye syndrome-like episodes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Intermittent lactic acidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
3
|
0.100 |
None |
|
0 |
|
|
|
Apneic episodes in infancy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Drowsiness
|
phenotype |
Mental Disorders
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Episodic tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
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 |
|
|
|
Fasting Hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
1
|
0.100 |
None |
|
0 |
|
|
|
Excessive daytime somnolence
|
phenotype |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Invasive Fungal Infections
|
group |
Infections
|
Disease or Syndrome
|
52
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neonatal hypoglycemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
55
|
13
|
0.100 |
None |
|
0 |
|
|
|
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Tachycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
73
|
8
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Somnolence
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Mental or Behavioral Dysfunction
|
87
|
8
|
0.100 |
None |
|
0 |
|
|
|
Maturity onset diabetes mellitus in young
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
105
|
49
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|