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Ontology Browser

Term:
von Hippel-Lindau disease (DOID:14175)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (4) Bonobo: (5) Dog: (5) Squirrel: (3) Pig: (5)
Parent Terms Term With Siblings Child Terms
Angiomatosis +     
hemangioblastoma +     
ataxia telangiectasia +   
bacillary angiomatosis 
brain stem angioblastoma 
breast angiomatosis +  
CEDNIK syndrome  
cerebellar angioblastoma  
Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert 
Elejalde Disease 
Encephalocraniocutaneous Lipomatosis  
Familial Capillaro-Venous Leptomeningeal Angiomatosis 
FINCA Syndrome  
Gomez Lopez Hernandez Syndrome 
Hapnes Boman Skeie Syndrome 
Hereditary Neurocutaneous Angioma 
Johnson Neuroectodermal Syndrome 
Klippel-Trenaunay syndrome +   
linear nevus sebaceous syndrome +   
Neurocutaneous Melanosis  
neurofibromatosis +   
PHACE Association  
Phacomatosis Pigmentovascularis 
Pseudoangiomatous Stromal Hyperplasia 
retinal hemangioblastoma 
Sturge-Weber syndrome +   
tuberous sclerosis +   
von Hippel-Lindau disease  
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.
Wyburn Mason's Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: Angiomatosis Retinae ;   Familial Cerebello Retinal Angiomatosis ;   Familial Cerebello-Retinal Angiomatoses ;   Familial Cerebelloretinal Angiomatoses ;   Familial Cerebelloretinal Angiomatosis ;   Hippel Lindau Disease ;   Hippel Lindau syndrome ;   Lindau Disease ;   Lindau's Disease ;   Lindau's Diseases ;   Lindaus Disease ;   VHL ;   VHL Syndrome ;   VHL Syndromes ;   von Hippel Lindau Syndrome ;   von Hippel-Lindau
Related Synonyms: von Hippel-Lindau syndrome, modifier of ;   von Hippel-Lindau syndrome, modifiers of
Primary IDs: MESH:D006623
Alternate IDs: OMIM:193300
Xrefs: GARD:7855 ;   ICD10CM:Q85.8 ;   NCI:C3105
Definition Sources: MESH:D006623

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.