Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal dominant disease |
| gptkbp:affects |
gptkb:skeletal_muscle
cardiovascular system |
| gptkbp:causedBy |
TGFB2 gene mutation
|
| gptkbp:eponymOf |
gptkb:Bart_L._Loeys
gptkb:Harry_C._Dietz |
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome type 4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
614816
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:subspecies |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:symptom |
skeletal abnormalities
hypertelorism cleft palate arterial aneurysms bifid uvula arterial dissections |
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
7
|