Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
cardiovascular system
skeletal system craniofacial structures |
| gptkbp:alternativeName |
LDS type 1
|
| gptkbp:discoveredBy |
gptkb:Bart_L._Loeys
gptkb:Harry_C._Dietz |
| gptkbp:firstDescribed |
2005
|
| gptkbp:ICD-10_code |
Q87.4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TGFBR1_gene
|
| gptkbp:OMIM |
609192
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
aortic dissection
|
| gptkbp:symptom |
aortic aneurysm
skeletal abnormalities hypertelorism cleft palate arterial tortuosity bifid uvula |
| gptkbp:treatment |
gptkb:angiotensin_receptor_blockers
beta blockers surgical repair |
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome type 1
|