- Concept UI
- M0010373
- Scope Note
- 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.
- Terms
-
von Hippel-Lindau Disease
Preferred Term
Term UI
T019933
Date10/24/1994
LexicalTag
EPO
ThesaurusID
-
Cerebelloretinal Angiomatosis, Familial
Term UI
T372181
Date11/08/1999
LexicalTag
NON
ThesaurusID
-
Familial Cerebello-Retinal Angiomatosis
Term UI
T372184
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Hippel-Lindau Disease
Term UI
T019932
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Lindau Disease
Term UI
T372182
Date11/08/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Lindau's Disease
Term UI
T372185
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
von Hippel-Lindau Syndrome
Term UI
T372183
Date11/08/1999
LexicalTag
EPO
ThesaurusID
-
Angiomatosis Retinae
Term UI
T842671
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
VHL Syndrome
Term UI
T844128
Date05/14/2013
LexicalTag
ABX
ThesaurusID
GHR (2014)