Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:causedBy |
mutation in FBN1 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
progeroid fibrillinopathy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
614559
|
| gptkbp:symptom |
lipodystrophy
premature aging marfanoid habitus joint contractures |
| gptkbp:synonym |
progeroid variant of Marfan syndrome
|
| gptkbp:bfsParent |
gptkb:Marfanoid–progeroid–lipodystrophy_syndrome
|
| gptkbp:bfsLayer |
7
|