|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000139)
|
Uterine prolapse |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0000939)
|
Osteoporosis |
rare [HPO:skoehler]
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
10
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
13
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
15
|
(HPO:0001642)
|
Pulmonic stenosis |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
16
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
19
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
20
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
|
|
76 / 7739
|
|
22
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0002647)
|
Aortic dissection |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
26
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
|
27
|
(HPO:0004942)
|
Aortic aneurysm |
|
|
|
|
10 / 7739
|
|
28
|
(HPO:0005086)
|
Knee osteoarthritis |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
|
|
71 / 7739
|
|
30
|
(HPO:0005116)
|
Arterial tortuosity |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0008419)
|
Intervertebral disc degeneration |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0008843)
|
Hip osteoarthritis |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0010886)
|
Osteochondritis Dissecans |
|
|
|
|
9 / 7739
|
|
34
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
35
|
(HPO:0100775)
|
Dural ectasia |
|
|
|
|
5 / 7739
|
|
36
|
(OMIM)
|
Abnormal uvula |
|
|
|
|
2 / 7739
|
|
37
|
(MedDRA:10003143)
|
Arterial aneurysm NOS |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0002619)
|
Varicose veins |
|
|
|
|
11 / 7739
|
|
39
|
(MedDRA:10062696)
|
Spider vein |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Bowel prolapse |
|
|
|
|
1 / 7739
|
|
41
|
(MedDRA:10048475)
|
Bladder prolapse |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Facet joint osteoarthritis |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Uncovertebral (C3-C7) joint osteoarthritis |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Spondylysis |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Long bone overgrowth (dolichostenomelia) |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Meniscal lesions |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
48
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
49
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|