|
1
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
2
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
3
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
4
|
(HPO:0002592)
|
Gastric ulcer |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
7
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
10
|
(OMIM)
|
Lack of abnormal hepatic pigmentation |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Increased urinary excretion of coproporphyrin I |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|