von Hippel–Lindau disease

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:rare_disease
gptkbp:affects	multiple organ systems
gptkbp:alsoKnownAs	gptkb:VHL_disease
gptkbp:associatedWith	gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:renal_cell_carcinoma gptkb:pheochromocytoma endolymphatic sac tumor pancreatic cysts
gptkbp:category	gptkb:phakomatosis gptkb:neurocutaneous_syndrome
gptkbp:diagnosedBy	MRI genetic testing
gptkbp:firstDescribed	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau 1904
gptkbp:hasGeneticTest	yes
gptkbp:hasOrphanetID	ORPHA:892
gptkbp:ICD-10_code	Q85.8
gptkbp:inheritance	autosomal dominant
gptkbp:MeSH_ID	D014839
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	increased risk of cancer
gptkbp:supportersGroup	gptkb:VHL_Alliance gptkb:VHL_UK/Ireland
gptkbp:symptom	high blood pressure vision loss headaches
gptkbp:treatment	gptkb:targeted_therapy regular surveillance surgical removal of tumors
gptkbp:bfsParent	gptkb:Eugen_von_Hippel gptkb:Theodor_von_Hippel
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	von Hippel–Lindau disease