Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
blood vessels
|
| gptkbp:alsoKnownAs |
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_1
|
| gptkbp:diagnosedBy |
clinical criteria
|
| gptkbp:firstDescribed |
late 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
HHT1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:ENG_gene
|
| gptkbp:OMIM |
187300
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
stroke
brain abscess gastrointestinal bleeding |
| gptkbp:symptom |
arteriovenous malformations
recurrent nosebleeds telangiectasias |
| gptkbp:treatment |
supportive care
embolization laser therapy |
| gptkbp:bfsParent |
gptkb:HHT
|
| gptkbp:bfsLayer |
6
|