|
1
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
24876348
|
IBIS
|
232 / 7739
|
|
2
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
21540632
|
IBIS
|
169 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
3989388
|
IBIS
|
297 / 7739
|
|
4
|
(HPO:0000790)
|
Hematuria |
Frequent [Orphanet]
|
|
17183024
|
IBIS
|
106 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
21540632
|
IBIS
|
224 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
1582035
|
IBIS
|
337 / 7739
|
|
7
|
(HPO:0001878)
|
Hemolytic anemia |
Very frequent [Orphanet]
|
|
21540632
|
IBIS
|
83 / 7739
|
|
8
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
1582035
|
IBIS
|
467 / 7739
|
|
9
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
21540632
|
IBIS
|
33 / 7739
|
|
10
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
22271127
|
IBIS
|
129 / 7739
|
|
11
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
24876348
|
IBIS
|
60 / 7739
|
|
12
|
(HPO:0007759)
|
Opacification of the corneal stroma |
Very frequent [Orphanet]
|
|
12886512
|
IBIS
|
77 / 7739
|
|
13
|
(HPO:0007957)
|
Corneal opacity |
Very frequent [Orphanet]
hallmark [HPO]
|
|
24876348
|
IBIS
|
84 / 7739
|
|
14
|
(HPO:0002907)
|
Microscopic hematuria |
Frequent [Orphanet]
|
|
17452402
|
IBIS
|
27 / 7739
|
|
15
|
(HPO:0004416)
|
Precocious atherosclerosis |
Occasional [Orphanet]
|
|
21540632
|
IBIS
|
12 / 7739
|
|
16
|
(HPO:0002155)
|
Hypertriglyceridemia |
Very frequent [Orphanet]
|
|
24876348
|
IBIS
|
67 / 7739
|
|
17
|
(HPO:0003077)
|
Hyperlipidemia |
Very frequent [Orphanet]
|
|
24876348
|
IBIS
|
37 / 7739
|
|
18
|
(HPO:0003124)
|
Hypercholesterolemia |
Very frequent [Orphanet]
|
|
21540632
|
IBIS
|
53 / 7739
|
|
19
|
(HPO:0003349)
|
Low cholesterol esterification rates |
|
|
21540632
|
IBIS
|
4 / 7739
|
|
20
|
(HPO:0003362)
|
Increased circulating very-low-density lipoprotein cholesterol |
|
|
21540632
|
IBIS
|
9 / 7739
|
|
21
|
(HPO:0001114)
|
Xanthelasma |
|
|
21540632
|
IBIS
|
13 / 7739
|
|
22
|
(HPO:0001895)
|
Normochromic anemia |
|
|
24174160
|
IBIS
|
7 / 7739
|
|
23
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
24174160
|
IBIS
|
83 / 7739
|
|
24
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
24174160
|
IBIS
|
18 / 7739
|
|
25
|
(HPO:0100820)
|
Glomerulopathy |
|
|
21809306
|
IBIS
|
46 / 7739
|
|
26
|
(HPO:0000613)
|
Photophobia |
|
|
21540632
|
IBIS
|
158 / 7739
|