|
1
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
2
|
(HPO:0001046)
|
Intermittent jaundice |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
8
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
9
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0002630)
|
Fat malabsorption |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
16
|
(OMIM)
|
Intracanalicular cholestasis shown on biopsy |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Giant cell transformation shown on biopsy |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Bridging fibrosis shown on biopsy |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
End-stage liver disease before adulthood |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Increased risk of hepatocellular carcinoma |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Malabsorption of fat and fat-soluble vitamins |
|
|
|
|
7 / 7739
|
|
22
|
(OMIM)
|
Increased serum bile acids |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Normal or mildly increased serum gamma-GGT (231950) |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
26
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|