|
1
|
(HPO:0007759)
|
Opacification of the corneal stroma |
Very frequent [Orphanet]
|
|
21540632; 9261271
|
IBIS
|
77 / 7739
|
|
2
|
(HPO:0007957)
|
Corneal opacity |
Very frequent [Orphanet]
hallmark [HPO]
|
|
21540632
|
IBIS
|
84 / 7739
|
|
3
|
(HPO:0002155)
|
Hypertriglyceridemia |
Very frequent [Orphanet]
|
|
21540632
|
IBIS
|
67 / 7739
|
|
4
|
(HPO:0003077)
|
Hyperlipidemia |
Very frequent [Orphanet]
|
|
21540632
|
IBIS
|
37 / 7739
|
|
5
|
(HPO:0003124)
|
Hypercholesterolemia |
Very frequent [Orphanet]
|
|
21540632
|
IBIS
|
53 / 7739
|
|
6
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
24636183
|
IBIS
|
58 / 7739
|
|
7
|
(HPO:0003141)
|
Hyperbetalipoproteinemia |
|
|
21540632
|
IBIS
|
10 / 7739
|
|
8
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
21540632; 25172171
|
IBIS
|
18 / 7739
|
|
9
|
(HPO:0003362)
|
Increased circulating very-low-density lipoprotein cholesterol |
|
|
21540632
|
IBIS
|
9 / 7739
|
|
10
|
(OMIM)
|
Increased plasma VLDL, LDL |
|
|
21540632
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity |
|
|
21540632
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
|
|
22855019
|
IBIS
|
272 / 7739
|