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 |
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 | |
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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/193300 | Online Mendelian Inheritance in Man | LOOM |