|
1
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0001574)
|
Abnormality of the integument |
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
10
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
|
12
|
(HPO:0003540)
|
Impaired platelet aggregation |
|
|
|
|
17 / 7739
|
|
13
|
(HPO:0004446)
|
Stomatocytosis |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0004802)
|
Episodic hemolytic anemia |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0004870)
|
Chronic hemolytic anemia |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0004929)
|
Coronary atherosclerosis |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0008158)
|
Hyperapobetalipoproteinemia |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0002621)
|
Atherosclerosis |
|
|
|
|
33 / 7739
|
|
19
|
(OMIM)
|
Cholesterol biosynthesis severely depressed |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Joint arthralgia |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Tendinous and tuberous xanthoma |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0001872)
|
Abnormality of thrombocytes |
|
|
|
|
20 / 7739
|
|
23
|
(OMIM)
|
Elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia) |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Elevated plasma campesterol |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Elevated plasma stigmasterol |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Microsomal HMG-CoA reductase decreased |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|