|
gptkbp:instanceOf
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gptkb:disease
|
|
gptkbp:affects
|
blood vessels
|
|
gptkbp:alsoKnownAs
|
gptkb:Osler-Weber-Rendu_syndrome
|
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gptkbp:complication
|
heart failure
stroke
brain abscess
pulmonary hypertension
|
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gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
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gptkbp:fieldOfStudy
|
gptkb:medicine
genetics
hematology
vascular medicine
|
|
gptkbp:firstDescribed
|
gptkb:Henri_Rendu
gptkb:William_Osler
gptkb:Frederick_Parkes_Weber
|
|
gptkbp:fullName
|
gptkb:Hereditary_Hemorrhagic_Telangiectasia
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HHT
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ACVRL1_gene
gptkb:ENG_gene
gptkb:SMAD4_gene
|
|
gptkbp:OMIM
|
187300
|
|
gptkbp:prevalence
|
1 in 5,000 to 8,000
|
|
gptkbp:subspecies
|
gptkb:HHT1
gptkb:HHT2
gptkb:HHT3
gptkb:HHT4
gptkb:JP-HHT
|
|
gptkbp:symptom
|
arteriovenous malformations
gastrointestinal bleeding
recurrent nosebleeds
iron deficiency anemia
telangiectasias
|
|
gptkbp:treatment
|
gptkb:bevacizumab
embolization
iron supplementation
laser therapy
|
|
gptkbp:bfsParent
|
gptkb:Osler-Weber-Rendu_disease
|
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gptkbp:bfsLayer
|
5
|