|
1
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
2
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0011276)
|
Vascular skin abnormality |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0005244)
|
Gastrointestinal infarctions |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0001928)
|
Abnormality of coagulation |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
8
|
(HPO:0002584)
|
Intestinal bleeding |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
10
|
(HPO:0001048)
|
Cavernous hemangioma |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0001935)
|
Microcytic anemia |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
14
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
|
15
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
16
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
18
|
(HPO:0001891)
|
Iron deficiency anemia |
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0002035)
|
Rectal prolapse |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0002576)
|
Intussusception |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0002580)
|
Volvulus |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
24
|
(HPO:0005520)
|
Chronic disseminated intravascular coagulation |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007129)
|
Cerebellar medulloblastoma |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Oral mucosa venous malformations |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Thrombi |
|
|
|
|
1 / 7739
|
|
28
|
(MedDRA:10051474)
|
Phlebolith |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Low flow state |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Pulmonary venous malformations |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hepatic venous malformations |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Intestinal venous malformations |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Polypoid filling defects seen on barium enema |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Coarsened trabeculae |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Cortical remodeling |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Limb hypertrophy |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Limb hypotrophy |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Pathologic fracture due to focal lytic defects |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Limb bowing |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Multiple, red-blue, soft, compressible vascular papules or macules (especially on trunk or upper arms) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
CNS venous malformations |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Sinus pericranii (rare) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0002242)
|
Abnormality of the intestine |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
44
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|