|
1
|
(HPO:0000952)
|
Jaundice |
rare [HPO:skoehler]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
3
|
(HPO:0001082)
|
Cholecystitis |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
8
|
(HPO:0011980)
|
Cholesterol gallstones |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Cholestasis, chronic |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Intrahepatic cholelithiasis |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Cholesterol cholelithiasis |
|
|
|
|
1 / 7739
|
|
12
|
(MedDRA:10062199)
|
Microlithiasis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Intrahepatic sludge |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Echogenic material in intrahepatic bile ducts |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Ductal proliferation seen on biopsy (in some patients) |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Periportal macrophage infiltration |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10004663)
|
Biliary colic |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10008604)
|
Cholangitis |
|
|
|
|
6 / 7739
|
|
19
|
(OMIM)
|
Bile contains cholesterol crystals |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Bile shows increased cholesterol/phospholipid ratio |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0030151)
|
Cholangitis |
|
|
|
|
10 / 7739
|