The von Hippel–Lindau (vhl) gene was first identified in 1993, by positional cloning.25 It is associated with VHL disease, an autosomal dominant genetic disease caused by germline inactivating mutations in vhl, predisposing to various types of tumours, such as retinal angiomatosis and haemangioblastomas.26,27 These conditions had been known long before the vhl gene was discovered. The gene discussed is VHL; the disease is neoplasm.