|
1
|
(HPO:0000660)
|
Lipemia retinalis |
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0001013)
|
Eruptive xanthomas |
|
|
|
|
3 / 7739
|
|
4
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0002017)
|
Nausea and vomiting |
|
|
|
|
134 / 7739
|
|
9
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0002574)
|
Episodic abdominal pain |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
|
13
|
(HPO:0012238)
|
Hyperchylomicronemia |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Fat-induced hyperlipemia |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Lipoprotein lipase (LPL) deficiency |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Alpha and beta lipoproteins low |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Chylomicron removal defect |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased plasma postheparin lipolytic activity (PHLA) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Plasma lactescence |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Heterozygotes may show slight hyperlipemia and reduced PHLA |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
No precocious atherosclerosis |
|
|
|
|
1 / 7739
|
|
22
|
(MedDRA:10051341)
|
Bile duct stenosis |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|