|
1
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
|
2
|
(HPO:0001050)
|
Plethora |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0001898)
|
Increased red blood cell mass |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0001899)
|
Increased hematocrit |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0001900)
|
Increased hemoglobin |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
9
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
10
|
(HPO:0002619)
|
Varicose veins |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0002641)
|
Peripheral thrombosis |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0012378)
|
Fatigue |
|
|
|
|
50 / 7739
|
|
13
|
(HPO:0002597)
|
Abnormality of the vasculature |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Vertebral hemangiomas |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
16
|
(OMIM)
|
Increased serum erythropoietin (EPO, 133170) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased serum vascular endothelial growth factor (VEGF, 192240) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased serum plasminogen activator inhibitor-1 (PAI1, 173360) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal leukocyte and platelet counts |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|