|
1
|
(HPO:0011355)
|
Localized skin lesion |
Very frequent [IBIS]
|
90% (n=42)
|
18157818
|
IBIS
|
3 / 7739
|
|
2
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
20358627
|
IBIS
|
40 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
20358627
|
IBIS
|
147 / 7739
|
|
4
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
21671388
|
IBIS
|
29 / 7739
|
|
5
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
20358627
|
IBIS
|
74 / 7739
|
|
6
|
(OMIM)
|
Peau d'orange retinal changes |
Frequent [IBIS]
|
64% (n=42)
|
18157818
|
IBIS
|
3 / 7739
|
|
7
|
(HPO:0004950)
|
Peripheral arterial disease |
Frequent [IBIS]
|
53% (n=42)
|
18157818
|
IBIS
|
3 / 7739
|
|
8
|
(HPO:0000822)
|
Hypertension |
Frequent [IBIS]
|
41% (n=42)
|
18157818
|
IBIS
|
224 / 7739
|
|
9
|
(HPO:0005180)
|
Tricuspid regurgitation |
Frequent [IBIS]
|
38% (n=42)
|
18157818
|
IBIS
|
20 / 7739
|
|
10
|
(HPO:0001102)
|
Angioid streaks of the retina |
Frequent [IBIS]
|
|
20358627
|
IBIS
|
11 / 7739
|
|
11
|
(HPO:0004417)
|
Intermittent claudication |
Occasional [IBIS]
|
22% (n=42)
|
18157818
|
IBIS
|
10 / 7739
|
|
12
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [IBIS]
|
15% (n=42)
|
18157818
|
IBIS
|
70 / 7739
|
|
13
|
(HPO:0000573)
|
Retinal hemorrhage |
Occasional [IBIS]
|
12% (n=42)
|
18157818
|
IBIS
|
13 / 7739
|
|
14
|
(HPO:0001681)
|
Angina pectoris |
Occasional [IBIS]
|
12% (n=42)
|
18157818
|
IBIS
|
22 / 7739
|
|
15
|
(HPO:0010444)
|
Pulmonary insufficiency |
Occasional [IBIS]
|
12% (n=42)
|
18157818
|
IBIS
|
11 / 7739
|
|
16
|
(HPO:0001582)
|
Redundant skin |
Occasional [IBIS]
|
9% (n=42)
|
18157818
|
IBIS
|
51 / 7739
|
|
17
|
(HPO:0000973)
|
Cutis laxa |
Occasional [IBIS]
|
9% (n=42)
|
18157818
|
IBIS
|
43 / 7739
|
|
18
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
Occasional [IBIS]
|
|
20358627
|
IBIS
|
97 / 7739
|
|
19
|
(HPO:0001658)
|
Myocardial infarction |
Rare [IBIS]
|
5% (n=42)
|
18157818
|
IBIS
|
30 / 7739
|
|
20
|
(HPO:0001634)
|
Mitral valve prolapse |
Rare [IBIS]
|
2.5% (n=42)
|
18157818
|
IBIS
|
69 / 7739
|
|
21
|
(HPO:0000608)
|
Macular degeneration |
Occasional [Orphanet]
|
26% (n=42)
|
18157818
|
IBIS
|
36 / 7739
|
|
22
|
(HPO:0000121)
|
Nephrocalcinosis |
Occasional [Orphanet]
|
|
27181788
|
IBIS
|
57 / 7739
|
|
23
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
20358627
|
IBIS
|
75 / 7739
|
|
24
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
20358627
|
IBIS
|
297 / 7739
|
|
25
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
23510649
|
IBIS
|
286 / 7739
|
|
26
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
6075793
|
IBIS
|
85 / 7739
|
|
27
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
8252829
|
IBIS
|
141 / 7739
|
|
28
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
20358627
|
IBIS
|
98 / 7739
|
|
29
|
(HPO:0001061)
|
Acne |
Occasional [Orphanet]
|
|
9649690
|
IBIS
|
33 / 7739
|
|
30
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
20358627
|
IBIS
|
69 / 7739
|
|
31
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
23408347
|
IBIS
|
58 / 7739
|
|
32
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Occasional [Orphanet]
|
|
26930168
|
IBIS
|
20 / 7739
|
|
33
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
26564082
|
IBIS
|
40 / 7739
|
|
34
|
(HPO:0002617)
|
Aneurysm |
Occasional [Orphanet]
|
|
23408347
|
IBIS
|
34 / 7739
|
|
35
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
20358627
|
IBIS
|
24 / 7739
|
|
36
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
20358627
|
IBIS
|
272 / 7739
|
|
37
|
(HPO:0100545)
|
Arterial stenosis |
Very frequent [Orphanet]
|
|
23408347
|
IBIS
|
22 / 7739
|
|
38
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
20358627
|
IBIS
|
33 / 7739
|
|
39
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Very frequent [Orphanet]
|
|
15825558
|
IBIS
|
25 / 7739
|
|
40
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
20358627
|
IBIS
|
192 / 7739
|
|
41
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
20358627
|
IBIS
|
123 / 7739
|
|
42
|
(HPO:0004966)
|
Medial calcification of large arteries |
|
|
23408347
|
IBIS
|
1 / 7739
|
|
43
|
(HPO:0005297)
|
Premature occlusive vascular disease |
|
|
23408347
|
IBIS
|
2 / 7739
|
|
44
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
20358627
|
IBIS
|
100 / 7739
|
|
45
|
(MedDRA:10071003)
|
Serum fetuin-A decreased |
|
|
21671388
|
IBIS
|
1 / 7739
|
|
46
|
(HPO:0003549)
|
Abnormality of connective tissue |
|
|
21671388
|
IBIS
|
22 / 7739
|
|
47
|
(HPO:0010766)
|
Ectopic calcification |
|
|
21671388
|
IBIS
|
5 / 7739
|
|
48
|
(HPO:0045059)
|
Hyperkeratotic papule |
|
|
20358627
|
IBIS
|
4 / 7739
|
|
49
|
(HPO:0007950)
|
Peripapillary chorioretinal atrophy |
|
|
20358627
|
IBIS
|
3 / 7739
|
|
50
|
(HPO:0006705)
|
Abnormality of the atrioventricular valves |
|
|
20358627
|
IBIS
|
2 / 7739
|
|
51
|
(HPO:0012457)
|
Medial calcification of medium-sized arteries |
|
|
23408347
|
IBIS
|
1 / 7739
|
|
52
|
(HPO:0012458)
|
Medial calcification of small arteries |
|
|
23408347
|
IBIS
|
1 / 7739
|
|
53
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
18157818
|
IBIS
|
64 / 7739
|