Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:causedBy |
SMAD3 gene mutation
|
| gptkbp:complication |
early-onset osteoarthritis
arterial dissection |
| gptkbp:containsGene |
gptkb:SMAD3
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome type 3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
613795
|
| gptkbp:onset |
childhood
|
| gptkbp:subspecies |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:symptom |
aortic aneurysm
skeletal abnormalities hypertelorism cleft palate joint hypermobility arterial tortuosity |
| gptkbp:treatment |
gptkb:angiotensin_receptor_blockers
beta-blockers surgical repair of aneurysms |
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
7
|