| umls-concept:C0019562 | skos:definition | NCI: A rare inherited disorder in which blood vessels grow abnormally in the eyes, brain, spinal cord, adrenal glands, or other parts of the body. People with von Hippel-Lindau syndrome have a higher risk of developing some types of cancer.,MSH: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.,CSP: autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction.,MEDLINEPLUS: <p>Von Hippel-Lindau disease (VHL) is a rare, gen | lld:umls |
