Reduced aldolase level
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Transient aminoaciduria
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Bicarbonaturia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperuricosuria
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Disorder of carbohydrate metabolism
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hereditary fructose intolerance syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
47
|
0.770 |
None |
1.000 |
48 |
46
|
1983 |
2017 |
Hypermagnesemia result
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypermagnesemia, CTCAE
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Other specified peritonitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
8
|
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |
Hypermagnesemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
|
disease |
|
Neoplastic Process
|
12
|
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |
Liver and Intrahepatic Bile Duct Neoplasm
|
disease |
Digestive System Diseases
|
Neoplastic Process
|
12
|
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |
Renal Tubular Acidosis, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Episodic hyperhidrosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Reactive hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Proximal tubulopathy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Phosphate Diabetes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Glycosuria
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
53
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
77
|
75
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|