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Disease von Hippel-Lindau Disease

Name von Hippel-Lindau Disease
Synonyms Angiomatoses, Familial Cerebelloretinal | Angiomatoses, Familial Cerebello-Retinal | Angiomatosis, Familial Cerebelloretinal | Angiomatosis, Familial Cerebello-Retinal | Angiomatosis Retinae | Cerebelloretinal Angiomatoses, Familial | Cerebello-Retinal Angiomatoses, Familial | Cerebelloretinal Angiomatosis, Familial | Cerebello-Retinal Angiomatosis, Familial | Familial Cerebelloretinal Angiomatoses | Familial Cerebello-Retinal Angiomatoses | Familial Cerebelloretinal Angiomatosis | Familial Cerebello Retinal Angiomatosis | Familial Cerebello-Retinal Angiomatosis | Hippel Lindau Disease | Hippel-Lindau Disease | Lindau Disease | Lindau's Disease | Lindaus Disease | Lindau's Diseases | Retinae, Angiomatosis | Syndromes, VHL | Syndrome, VHL | Syndrome, von Hippel-Lindau | VHL | VHL Syndrome | VHL Syndromes | von Hippel Lindau Disease | von Hippel Lindau Syndrome | von Hippel-Lindau Syndrome | VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
Definition 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.
Categories Cardiovascular disease | Nervous system disease
MeSH® ID D006623
OMIM® ID 193300
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurocutaneous Syndromes Has associated chemicals Has associated genes von Hippel-Lindau Disease Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Angiomatosis Has associated chemicals Has associated genes von Hippel-Lindau Disease Has associated chemicals Has associated genes

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