Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:associated_with |
gptkb:Marfan_syndrome
gptkb:computer neurological issues gastrointestinal problems ocular issues pectus deformities |
| gptkbp:can_lead_to |
disability
chronic pain psychosocial issues premature death |
| gptkbp:caused_by |
mutations in TGFB R1 or TGFB R2 genes
|
| gptkbp:clinical_trial |
new treatment options
monitoring strategies surgical techniques genetic counseling interventions |
| gptkbp:customer_support |
gptkb:hospital
online forums patient advocacy groups genetic counselors |
| gptkbp:descendant |
autosomal dominant
|
| gptkbp:first_described_by |
gptkb:2005
|
| gptkbp:genetic_diversity |
at-risk family members
|
| https://www.w3.org/2000/01/rdf-schema#label |
Loeys-Dietz syndrome
|
| gptkbp:is_characterized_by |
cleft palate
hypertelorism aortic aneurysms arterial tortuosity |
| gptkbp:is_popular_in |
rare
|
| gptkbp:manager |
regular cardiovascular monitoring
|
| gptkbp:named_after |
Bart Loeys
Harry Dietz |
| gptkbp:public_awareness |
health organizations
research institutions patient advocacy groups medical societies |
| gptkbp:research_focus |
improving patient outcomes
developing targeted therapies understanding TGF-beta signaling |
| gptkbp:risk_factor |
family history
connective tissue disorders |
| gptkbp:social_responsibility |
genetic testing
|
| gptkbp:symptoms |
heart defects
skin changes scoliosis joint laxity |
| gptkbp:treatment |
surgery for aneurysms
|
| gptkbp:bfsParent |
gptkb:Marfan_syndrome
|
| gptkbp:bfsLayer |
5
|