capillary malformation-arteriovenous malformation syndrome
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
blood vessels |
| gptkbp:causedBy |
mutation in RASA1 gene
|
| gptkbp:complication |
heart failure
bleeding neurological symptoms |
| https://www.w3.org/2000/01/rdf-schema#label |
capillary malformation-arteriovenous malformation syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
608354
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
arteriovenous malformations
capillary malformations fast-flow vascular anomalies |
| gptkbp:synonym |
CM-AVM syndrome
RASA1-related capillary malformation-arteriovenous malformation syndrome |
| gptkbp:bfsParent |
gptkb:RASA1
|
| gptkbp:bfsLayer |
7
|