|
gptkbp:instanceOf
|
genetic disorder
hereditary cancer syndrome
|
|
gptkbp:alsoKnownAs
|
Von Hippel–Lindau disease
|
|
gptkbp:associatedWith
|
gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
endolymphatic sac tumor
pancreatic cysts
|
|
gptkbp:category
|
gptkb:phakomatosis
gptkb:neurocutaneous_syndrome
rare disease
|
|
gptkbp:diagnosedBy
|
MRI
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
1904
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VHL disease
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:mutationAssociatedWith
|
gptkb:VHL_gene
|
|
gptkbp:namedAfter
|
gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
|
|
gptkbp:OMIM
|
193300
|
|
gptkbp:prevalence
|
1 in 36,000
|
|
gptkbp:riskFactor
|
benign and malignant neoplasms
multiple tumors
|
|
gptkbp:symptom
|
hypertension
vision problems
headaches
|
|
gptkbp:treatment
|
targeted therapy
regular surveillance
surgical removal of tumors
|
|
gptkbp:bfsParent
|
gptkb:Von_Hippel-Lindau_Disease
gptkb:von_Hippel–Lindau_disease
gptkb:von_Hippel-Lindau_disease
|
|
gptkbp:bfsLayer
|
7
|