|
1
|
(HPO:0000421)
|
Epistaxis |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002141)
|
Gait imbalance |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0002488)
|
Acute leukemia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0001409)
|
Portal hypertension |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
9
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
10
|
(HPO:0000360)
|
Tinnitus |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
11
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
12
|
(HPO:0000225)
|
Gingival bleeding |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
14
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0002863)
|
Myelodysplasia |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0000989)
|
Pruritus |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
17
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
18
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
19
|
(HPO:0004420)
|
Arterial thrombosis |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
|
23
|
(HPO:0001677)
|
Coronary artery disease |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
24
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
25
|
(HPO:0001894)
|
Thrombocytosis |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0001898)
|
Increased red blood cell mass |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0001899)
|
Increased hematocrit |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0001900)
|
Increased hemoglobin |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0001907)
|
Thromboembolism |
|
|
|
|
15 / 7739
|
|
30
|
(HPO:0001974)
|
Leukocytosis |
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0002637)
|
Cerebral ischemia |
|
|
|
|
17 / 7739
|
|
32
|
(HPO:0002639)
|
Budd-Chiari syndrome |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0005513)
|
Increased megakaryocyte count |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Myocardial ischemia |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0001977)
|
Abnormal thrombosis |
|
|
|
|
11 / 7739
|
|
36
|
(OMIM)
|
Increased myeloid precursor cells |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased megakaryocyte precursor cells |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Normal or decreased serum erythropoietin (EPO, 133170) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased PRV-1 (162860) mRNA |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Erythroid colony-forming units show spontaneous growth in the absence of EPO |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Normal arterial oxygen saturation |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
43
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
44
|
(HPO:0030164)
|
Jaw claudication |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
46
|
(HPO:0001428)
|
Somatic mutation |
|
|
|
|
100 / 7739
|
|
47
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|