Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
gptkb:sitosterolemia
|
| gptkbp:causedBy |
mutation in ABCG5 gene
mutation 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 |
phytosterolemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:symptom |
gptkb:anemia
arthralgia tendon xanthomas |
| gptkbp:treatment |
gptkb:ezetimibe
diet low in plant sterols |
| gptkbp:bfsParent |
gptkb:sitosterolemia
|
| gptkbp:bfsLayer |
6
|