familial hypercholesterolemia 3
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:FH3
|
| gptkbp:associatedWith |
increased risk of coronary artery disease
|
| gptkbp:characterizedBy |
elevated LDL cholesterol
|
| gptkbp:firstDescribed |
2003
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial hypercholesterolemia 3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PCSK9_gene
|
| gptkbp:OMIM |
603776
|
| gptkbp:treatment |
gptkb:PCSK9_inhibitors
statins |
| gptkbp:bfsParent |
gptkb:HGNC:8816
|
| gptkbp:bfsLayer |
7
|