Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
circulatory system
|
| gptkbp:alsoKnownAs |
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_2
|
| gptkbp:associatedWith |
gptkb:Hereditary_Hemorrhagic_Telangiectasia_(HHT)
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
late 20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
HHT2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:ACVRL1_gene
|
| gptkbp:OMIM |
600376
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gastrointestinal bleeding
cerebral arteriovenous malformations pulmonary arteriovenous malformations |
| gptkbp:symptom |
arteriovenous malformations
recurrent nosebleeds telangiectasia |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:HHT
|
| gptkbp:bfsLayer |
6
|