|
1
|
(HPO:0000421)
|
Epistaxis |
10/16 [HPO]
|
|
15031030
|
IBIS
|
85 / 7739
|
|
2
|
(HPO:0001009)
|
Telangiectasia |
14/20 [HPO]
|
|
15031030
|
IBIS
|
46 / 7739
|
|
3
|
(HPO:0001217)
|
Clubbing |
17/25 [HPO]
|
|
15031030
|
IBIS
|
39 / 7739
|
|
4
|
(HPO:0001297)
|
Stroke |
3/25 [HPO]
|
|
15031030
|
IBIS
|
44 / 7739
|
|
5
|
(HPO:0001634)
|
Mitral valve prolapse |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
6
|
(HPO:0001653)
|
Mitral regurgitation |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0001724)
|
Aortic dilatation |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0002408)
|
Cerebral arteriovenous malformation |
3/25 [HPO]
|
|
15031030
|
IBIS
|
7 / 7739
|
|
10
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0002672)
|
Gastrointestinal carcinoma |
5/20 [HPO]
|
|
15031030
|
IBIS
|
3 / 7739
|
|
12
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0004784)
|
Juvenile gastrointestinal polyposis |
100% [HPO]
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0006548)
|
Pulmonary arteriovenous malformation |
18/25 [HPO]
|
|
15031030
|
IBIS
|
5 / 7739
|
|
15
|
(HPO:0006574)
|
Hepatic arteriovenous malformation |
6/25 [HPO]
|
|
15031030
|
IBIS
|
5 / 7739
|
|
16
|
(OMIM)
|
Redundant mitral valve leaflets (1 family) |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0100026)
|
Arteriovenous malformation |
|
|
|
|
38 / 7739
|
|
18
|
(MedDRA:10020877)
|
Hypertrophic osteoarthropathy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Increased risk of gastrointestinal cancer |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|