Bile acid synthesis defect, congenital, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
5
|
0.700 |
None |
1.000 |
3 |
5
|
2000 |
2016 |
Cholestasis, progressive familial intrahepatic 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
13
|
0.300 |
None |
|
0 |
|
|
|
Neonatal cholestatic liver disease
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Deficiency of isomerase
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pale feces (finding)
|
phenotype |
Digestive System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Acholic stool
|
phenotype |
Digestive System Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Biliary tract abnormality
|
phenotype |
Digestive System Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Cholestasis in newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Neonatal hepatitis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive intrahepatic cholestasis (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
10
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2018 |
Steatorrhea
|
phenotype |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intrahepatic Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
54
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cholestatic liver disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
58
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.100 |
None |
|
0 |
|
|
|
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypocholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
113
|
22
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Pathologic Function
|
122
|
24
|
0.100 |
None |
|
0 |
|
|
|
Hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
131
|
27
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption
|
phenotype |
Digestive System Diseases
|
Finding
|
175
|
3
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|