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Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:hereditary_hemorrhagic_telangiectasia |
| gptkbp:alsoKnownAs |
gptkb:Rendu-Osler-Weber_disease
gptkb:hereditary_hemorrhagic_telangiectasia |
| gptkbp:causedBy |
mutation in ACVRL1 gene
mutation in ENG gene mutation in SMAD4 gene |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:field |
gptkb:medicine
genetics |
| gptkbp:firstDescribed |
late 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Osler's disease
|
| gptkbp:ICD-10_code |
I78.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:William_Osler
gptkb:Frederick_Parkes_Weber gptkb:Henri_Jules_Louis_Marie_Rendu |
| gptkbp:OMIM |
187300
|
| gptkbp:prevalence |
1 in 5,000 to 8,000
|
| gptkbp:symptom |
gptkb:anemia
arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasia |
| gptkbp:treatment |
supportive care
antifibrinolytic agents embolization iron supplementation laser therapy |
| gptkbp:bfsParent |
gptkb:Sir_William_Osler
|
| gptkbp:bfsLayer |
4
|