|
1
|
(HPO:0000214)
|
Lip telangiectasia |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0000227)
|
Tongue telangiectasia |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0000434)
|
Nasal mucosa telangiectasia |
|
|
|
|
3 / 7739
|
|
4
|
(HPO:0000471)
|
Gastrointestinal angiodysplasia |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0100760)
|
Clubbing of toes |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0001232)
|
Nail bed telangiectasia |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002170)
|
Intracranial hemorrhage |
|
|
|
|
40 / 7739
|
|
14
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0001694)
|
Right-to-left shunt |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
20
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
21
|
(HPO:0002138)
|
Subarachnoid hemorrhage |
|
|
|
|
9 / 7739
|
|
22
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
|
23
|
(HPO:0002140)
|
Ischemic stroke |
|
|
|
|
70 / 7739
|
|
24
|
(HPO:0002248)
|
Hematemesis |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002249)
|
Melena |
|
|
|
|
11 / 7739
|
|
26
|
(HPO:0002326)
|
Transient ischemic attack |
|
|
|
|
13 / 7739
|
|
27
|
(HPO:0002390)
|
Spinal arteriovenous malformation |
|
|
|
|
4 / 7739
|
|
28
|
(HPO:0002408)
|
Cerebral arteriovenous malformation |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0002604)
|
Gastrointestinal telangiectasia |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0002629)
|
Gastrointestinal arteriovenous malformation |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0002707)
|
Palate telangiectasia |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0004406)
|
Spontaneous, recurrent epistaxis |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0006107)
|
Fingerpad telangiectases |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0006548)
|
Pulmonary arteriovenous malformation |
|
|
|
|
5 / 7739
|
|
36
|
(HPO:0006574)
|
Hepatic arteriovenous malformation |
|
|
|
|
5 / 7739
|
|
37
|
(OMIM)
|
Choriocapillaris atrophy |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Nasal mucosa telangiectases |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Tongue telangiectases |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0100026)
|
Arteriovenous malformation |
|
|
|
|
38 / 7739
|
|
41
|
(OMIM)
|
A subset of patients develop pulmonary arterial hypertension |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
|
43
|
(HPO:0002584)
|
Intestinal bleeding |
|
|
|
|
16 / 7739
|
|
44
|
(MedDRA:10061636)
|
Angiodysplasia |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
46
|
(MedDRA:10006105)
|
Brain abscess |
|
|
|
|
2 / 7739
|