1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
2
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
3
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
4
|
(HPO:0001667)
|
Right ventricular hypertrophy |
hallmark [HPO]
|
|
|
|
23 / 7739
|
5
|
(HPO:0001708)
|
Right ventricular failure |
hallmark [HPO]
|
|
|
|
11 / 7739
|
6
|
(HPO:0001977)
|
Abnormal thrombosis |
frequent [HPO]
|
|
|
|
11 / 7739
|
7
|
(HPO:0002092)
|
Pulmonary hypertension |
100% [HPO]
|
|
|
|
109 / 7739
|
8
|
(HPO:0002094)
|
Dyspnea |
frequent [HPO]
|
|
|
|
132 / 7739
|
9
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
10
|
(HPO:0004964)
|
Pulmonary arterial medial hypertrophy |
frequent [HPO]
|
|
|
|
2 / 7739
|
11
|
(HPO:0005168)
|
Elevated right atrial pressure |
hallmark [HPO]
|
|
|
|
3 / 7739
|
12
|
(HPO:0005308)
|
Pulmonary artery vasoconstriction |
frequent [HPO]
|
|
|
|
4 / 7739
|
13
|
(HPO:0005312)
|
Pulmonary aterial intimal fibrosis |
frequent [HPO]
|
|
|
|
3 / 7739
|
14
|
(HPO:0005317)
|
Increased pulmonary vascular resistance |
hallmark [HPO]
|
|
|
|
7 / 7739
|
15
|
(HPO:0011353)
|
Arterial intimal fibrosis |
|
|
|
|
1 / 7739
|