|
1
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
4
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0200084)
|
Giant cell hepatitis |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
8
|
(OMIM)
|
Nonspecific inflammation on biopsy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Necrotic hepatocytes on biopsy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Reduced numbers of peroxisomes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Progressive liver failure |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Malabsorption of fat and fat-soluble vitamins |
|
|
|
|
7 / 7739
|
|
13
|
(OMIM)
|
Coagulopathy secondary to liver disease |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Decreased serum cholesterol |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (THCA) in bile, urine, and serum |
|
|
|
|
1 / 7739
|