Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:abbreviation |
gptkb:vascular_Ehlers-Danlos_syndrome
|
| gptkbp:associatedWith |
joint hypermobility
characteristic facial features |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:fullName |
gptkb:vascular_Ehlers-Danlos_syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL3A1_gene
|
| gptkbp:OMIM |
130050
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Ehlers-Danlos_syndromes
|
| gptkbp:riskFactor |
life-threatening complications
|
| gptkbp:symptom |
easy bruising
arterial rupture uterine rupture intestinal rupture thin translucent skin |
| gptkbp:treatment |
symptomatic management
regular monitoring avoidance of trauma |
| gptkbp:bfsParent |
gptkb:vascular_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
vEDS
|