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Descriptor English:   von Hippel-Lindau Disease 
Descriptor Spanish:   Enfermedad de von Hippel-Lindau 
Descriptor Portuguese:   Doença de von Hippel-Lindau 
Synonyms English:   Angiomatoses, Familial Cerebello-Retinal
Angiomatoses, Familial Cerebelloretinal
Angiomatosis Retinae
Angiomatosis, Familial Cerebello-Retinal
Angiomatosis, Familial Cerebelloretinal
Cerebello-Retinal Angiomatoses, Familial
Cerebello-Retinal Angiomatosis, Familial
Cerebelloretinal Angiomatoses, Familial
Cerebelloretinal Angiomatosis, Familial
Familial Cerebello Retinal Angiomatosis
Familial Cerebello-Retinal Angiomatoses
Familial Cerebello-Retinal Angiomatosis
Familial Cerebelloretinal Angiomatoses
Familial Cerebelloretinal Angiomatosis
Hippel Lindau Disease
Hippel-Lindau Disease
Lindau Disease
Lindau's Disease
Lindau's Diseases
Lindaus Disease
VHL Syndrome
VHL Syndromes
von Hippel Lindau Disease
von Hippel Lindau Syndrome
von Hippel-Lindau Syndrome  
Tree Number:   C10.562.925
Definition English:   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. 
History Note English:   2008 (1975) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   6781 
Unique Identifier:   D006623 

Occurrence in VHL: