|
1
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0000015)
|
Bladder diverticulum |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
4
|
(HPO:0001724)
|
Aortic dilatation |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0002647)
|
Aortic dissection |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
9
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
11
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
12
|
(HPO:0002619)
|
Varicose veins |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0100592)
|
Peritoneal abscess |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
18
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
19
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
20
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
21
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
22
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
24
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
|
25
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
26
|
(HPO:0001073)
|
Cigarette-paper scars |
|
|
|
|
7 / 7739
|
|
27
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
28
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
29
|
(OMIM)
|
Soft, velvety skin |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0001482)
|
Subcutaneous nodule |
|
|
|
|
17 / 7739
|
|
31
|
(OMIM)
|
Subcutaneous spheroids |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
33
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|