Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
cardiovascular system skeletal system ocular system |
| gptkbp:complication |
aortic dissection
retinal detachment mitral valve prolapse |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Antoine_Marfan
1896 |
| https://www.w3.org/2000/01/rdf-schema#label |
Marfan syndrome
|
| gptkbp:ICD-10_code |
Q87.4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D008382
|
| gptkbp:mutationAssociatedWith |
gptkb:FBN1_gene
|
| gptkbp:namedAfter |
gptkb:Antoine_Marfan
|
| gptkbp:OMIM |
154700
|
| gptkbp:prevalence |
1 in 5,000 to 1 in 10,000 people
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
scoliosis
aortic aneurysm pectus excavatum tall stature long limbs lens dislocation |
| gptkbp:treatment |
beta blockers
aortic surgery regular monitoring |
| gptkbp:bfsParent |
gptkb:Sir_John_Tavener
|
| gptkbp:bfsLayer |
5
|