Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
LDS type 2
|
| gptkbp:differentialDiagnosis |
gptkb:Marfan_syndrome
Ehlers-Danlos syndrome |
| gptkbp:field |
medical genetics
|
| gptkbp:firstDescribed |
2005
|
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TGFBR2_gene
|
| gptkbp:namedAfter |
gptkb:Bart_L._Loeys
gptkb:Harry_C._Dietz |
| gptkbp:OMIM |
610168
|
| gptkbp:symptom |
aortic aneurysm
skeletal abnormalities hypertelorism cleft palate arterial tortuosity bifid uvula |
| gptkbp:treatment |
gptkb:angiotensin_receptor_blockers
beta blockers surgical repair of aneurysms |
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
7
|