1
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
2
|
(HPO:0000015)
|
Bladder diverticulum |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
3
|
(HPO:0001724)
|
Aortic dilatation |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
4
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
5
|
(HPO:0001822)
|
Hallux valgus |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
7
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
8
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
9
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
10
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
12
|
(HPO:0002816)
|
Genu recurvatum |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
14
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
15
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
16
|
(HPO:0002647)
|
Aortic dissection |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
17
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
18
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
19
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
20
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
21
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
22
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
23
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
24
|
(HPO:0100592)
|
Peritoneal abscess |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
25
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
26
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
27
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
28
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
29
|
(HPO:0000394)
|
Lop ear |
|
|
|
|
6 / 7739
|
30
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
31
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
32
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
33
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
34
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
35
|
(HPO:0001058)
|
Poor wound healing |
|
|
|
|
9 / 7739
|
36
|
(HPO:0001073)
|
Cigarette-paper scars |
|
|
|
|
7 / 7739
|
37
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
38
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
39
|
(HPO:0002010)
|
Narrow maxilla |
|
|
|
|
3 / 7739
|
40
|
(HPO:0002616)
|
Aortic root dilatation |
|
|
|
|
27 / 7739
|
41
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
42
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
43
|
(HPO:0005100)
|
Premature birth following premature rupture of fetal membranes |
|
|
|
|
2 / 7739
|
44
|
(HPO:0005222)
|
Bowel diverticulosis |
|
|
|
|
2 / 7739
|
45
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
46
|
(OMIM)
|
Hypermobile |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Small, irregularly placed teeth |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Spontaneous bowel rupture |
|
|
|
|
1 / 7739
|
49
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
50
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
51
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
52
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
53
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
54
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
55
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
56
|
(OMIM)
|
Wide, thin scars |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Spheroids |
|
|
|
|
2 / 7739
|
58
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
59
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|