About: Von Hippel-Lindau Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Von Hippel-Lindau Syndrome
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Von Hippel-Lindau Syndrome
UMLS_CUI
  • C0019562
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.NCI-GLOSS
Legacy_Concept_Name
  • Von_Hippel-Lindau_Syndrome
FULL_SYN
  • Von Hippel-Lindau DiseaseSYNCI
  • VHL syndromePTNCI-GLOSSCDR0000575486
  • von Hippel-Lindau syndromePTNCI-GLOSSCDR0000045563
  • Von Hippel-Lindau SyndromePTNCI
  • Cerebroretinal AngiomatosisSYNCI
  • Von Hippel-Lindau Syndrome (VHL)SYNCI
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. --2004NCI
code
  • C3105
http://linked.open...y/mesh/hasConcept
is someValuesFrom of
is sameAs of
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 83 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software