Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
vascular malformation |
| gptkbp:affects |
gptkb:skin
limbs blood vessels |
| gptkbp:causedBy |
RASA1 gene mutation
|
| gptkbp:differentialDiagnosis |
gptkb:Klippel-Trenaunay_syndrome
|
| gptkbp:firstDescribed |
1907
|
| gptkbp:hasOrphanetID |
ORPHA:478
|
| https://www.w3.org/2000/01/rdf-schema#label |
Parkes Weber syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:Frederick_Parkes_Weber
|
| gptkbp:OMIM |
608355
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
arteriovenous fistulas
capillary malformations limb overgrowth port-wine stains |
| gptkbp:treatment |
embolization
surgical intervention compression therapy |
| gptkbp:bfsParent |
gptkb:Frederick_Parkes_Weber
|
| gptkbp:bfsLayer |
6
|