|
1
|
(HPO:0000132)
|
Menorrhagia |
|
|
|
|
40 / 7739
|
|
2
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
4
|
(HPO:0001658)
|
Myocardial infarction |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0001977)
|
Abnormal thrombosis |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0008264)
|
Neutrophil inclusion bodies |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
No kidney disease |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Sky-blue leukocyte inclusion bodies (Dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Thrombocytopenia, mild-moderate (60-100 x 10(9)/L) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Median mean platelet volume (MPV) 12.5fL |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|