1
|
(HPO:0000421)
|
Epistaxis |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0000524)
|
Conjunctival telangiectasia |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
3
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
4
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
5
|
(HPO:0001048)
|
Cavernous hemangioma |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
6
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
7
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
8
|
(HPO:0001399)
|
Hepatic failure |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
9
|
(HPO:0001409)
|
Portal hypertension |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
10
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
11
|
(HPO:0001935)
|
Microcytic anemia |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
12
|
(HPO:0002040)
|
Esophageal varix |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
13
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
14
|
(HPO:0002105)
|
Hemoptysis |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
15
|
(HPO:0002204)
|
Pulmonary embolism |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
16
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
17
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
18
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
19
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
20
|
(HPO:0100761)
|
Visceral angiomatosis |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
21
|
(HPO:0100784)
|
Peripheral arteriovenous fistula |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
22
|
(HPO:0200008)
|
Intestinal polyposis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
23
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
24
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
25
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
26
|
(HPO:0001410)
|
Decreased liver function |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
27
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
28
|
(HPO:0100026)
|
Arteriovenous malformation |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
29
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
30
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
31
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
32
|
(HPO:0012437)
|
Abnormal gallbladder morphology |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
34
|
(HPO:0000214)
|
Lip telangiectasia |
|
|
|
|
6 / 7739
|
35
|
(HPO:0000227)
|
Tongue telangiectasia |
|
|
|
|
3 / 7739
|
36
|
(HPO:0000434)
|
Nasal mucosa telangiectasia |
|
|
|
|
3 / 7739
|
37
|
(HPO:0000471)
|
Gastrointestinal angiodysplasia |
|
|
|
|
3 / 7739
|
38
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
39
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
40
|
(HPO:0001232)
|
Nail bed telangiectasia |
|
|
|
|
3 / 7739
|
41
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
42
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
43
|
(HPO:0001694)
|
Right-to-left shunt |
|
|
|
|
5 / 7739
|
44
|
(HPO:0001722)
|
High-output congestive heart failure |
|
|
|
|
4 / 7739
|
45
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
46
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
47
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
48
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
49
|
(HPO:0002138)
|
Subarachnoid hemorrhage |
|
|
|
|
9 / 7739
|
50
|
(HPO:0002248)
|
Hematemesis |
|
|
|
|
12 / 7739
|
51
|
(HPO:0002249)
|
Melena |
|
|
|
|
11 / 7739
|
52
|
(HPO:0002326)
|
Transient ischemic attack |
|
|
|
|
13 / 7739
|
53
|
(HPO:0002390)
|
Spinal arteriovenous malformation |
|
|
|
|
4 / 7739
|
54
|
(HPO:0002408)
|
Cerebral arteriovenous malformation |
|
|
|
|
7 / 7739
|
55
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
56
|
(HPO:0002604)
|
Gastrointestinal telangiectasia |
|
|
|
|
2 / 7739
|
57
|
(HPO:0002626)
|
Venous varicosities of celiac and mesenteric vessels |
|
|
|
|
2 / 7739
|
58
|
(HPO:0002629)
|
Gastrointestinal arteriovenous malformation |
|
|
|
|
2 / 7739
|
59
|
(HPO:0002642)
|
Arteriovenous fistulas of celiac and mesenteric vessels |
|
|
|
|
3 / 7739
|
60
|
(HPO:0002707)
|
Palate telangiectasia |
|
|
|
|
4 / 7739
|
61
|
(HPO:0004406)
|
Spontaneous, recurrent epistaxis |
|
|
|
|
7 / 7739
|
62
|
(HPO:0006107)
|
Fingerpad telangiectases |
|
|
|
|
3 / 7739
|
63
|
(HPO:0006548)
|
Pulmonary arteriovenous malformation |
|
|
|
|
5 / 7739
|
64
|
(HPO:0006574)
|
Hepatic arteriovenous malformation |
|
|
|
|
5 / 7739
|
65
|
(HPO:0011934)
|
Mesenteric artery aneurysm |
|
|
|
|
2 / 7739
|
66
|
(HPO:0030049)
|
Brain abscess |
|
|
|
|
1 / 7739
|
67
|
(HPO:0100858)
|
Celiac artery aneurysm |
|
|
|
|
2 / 7739
|