|
1
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
11
|
(HPO:0006580)
|
Portal fibrosis |
|
|
|
|
10 / 7739
|
|
12
|
(OMIM)
|
Nonspecific portal inflammation shown on biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Abnormal bile duct proliferation shown on biopsy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
End-stage liver disease before adulthood |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Malabsorption of fat and fat-soluble vitamins |
|
|
|
|
7 / 7739
|
|
16
|
(OMIM)
|
Increased serum gamma-GGT (231950) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased serum bile acids |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|