Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:phytosterolemia
|
| gptkbp:causedBy |
mutations in ABCG5 gene
mutations in ABCG8 gene |
| gptkbp:characterizedBy |
xanthomas
premature atherosclerosis elevated plant sterols in blood |
| gptkbp:diagnosedBy |
measurement of plasma plant sterols
|
| gptkbp:firstDescribed |
1974
|
| https://www.w3.org/2000/01/rdf-schema#label |
sitosterolemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
very rare
|
| gptkbp:treatment |
gptkb:ezetimibe
dietary restriction of plant sterols |
| gptkbp:bfsParent |
gptkb:Zetia
|
| gptkbp:bfsLayer |
5
|