|
1
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0001406)
|
Intrahepatic cholestasis |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
8
|
(OMIM)
|
Intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Jaundice, episodic |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Mild fibrosis (some), shown on biopsy |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Progression to end-stage liver disease does not occur |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Pruritus, episodic |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Normal or mildly increased serum gamma-GGT (231950) |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Increased serum bile acids |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|