Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
LDS5
|
| gptkbp:associatedWith |
hypertelorism
cleft palate joint hypermobility bifid uvula aortic root dilation |
| gptkbp:characterizedBy |
skeletal abnormalities
craniofacial abnormalities arterial aneurysms arterial dissections |
| gptkbp:firstDescribed |
2015
|
| gptkbp:hasOrphanetID |
ORPHA:457260
|
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome type 5
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TGFB3_gene
|
| gptkbp:OMIM |
615582
|
| gptkbp:subspecies |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
7
|