1
|
(HPO:0002653)
|
Bone pain |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
3
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
4
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
5
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
6
|
(HPO:0001409)
|
Portal hypertension |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
7
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
8
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
9
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
10
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
11
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
12
|
(HPO:0005248)
|
Intrahepatic biliary atresia |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
13
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
14
|
(HPO:0001012)
|
Multiple lipomas |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
15
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
16
|
(HPO:0001743)
|
Abnormality of the spleen |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
17
|
(HPO:0011985)
|
Acholic stools |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
18
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
19
|
(HPO:0001055)
|
Erysipelas |
|
|
|
|
6 / 7739
|
20
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
21
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
22
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
23
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
24
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
25
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
26
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
27
|
(HPO:0006566)
|
Neonatal cholestatic liver disease |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Infantile malabsorption |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Elevated serum bile acids |
|
|
|
|
1 / 7739
|
30
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|