National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Von Hippel-Lindau Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3105

ALT_DEFINITION

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.

An inherited familial cancer syndrome associated with germ line mutations of the VHL tumor suppressor gene, which is characterized by development of hemangioblastomas of the central nervous system and retina clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors.

code

C3105

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

Contributing_Source

CTRP

NICHD

DEFINITION

An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004

Display_Name

Von Hippel-Lindau Syndrome

FULL_SYN

Von Hippel-Lindau Disease

Von Hippel-Lindau Syndrome (VHL)

VHL syndrome

Cerebroretinal Angiomatosis

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348

label

Von Hippel-Lindau Syndrome

Legacy_Concept_Name

Von_Hippel-Lindau_Syndrome

NICHD_Hierarchy_Term

Von Hippel-Lindau Syndrome

Preferred_Name

Von Hippel-Lindau Syndrome

prefixIRI

C3105

prefLabel

Von Hippel-Lindau Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0019562

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348

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http://purl.bioontology.org/ontology/OMIM/193300 Online Mendelian Inheritance in Man LOOM