About: Hereditary Hemorrhagic Telangiectasia     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
  • Hereditary Hemorrhagic Telangiectasia
rdfs:subClassOf
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hereditary Hemorrhagic Telangiectasia
UMLS_CUI
  • C0039445
ALT_DEFINITION
  • An autosomal dominant vascular anomaly characterized by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (Dorland, 27th ed)MSH2003_2003_05_12
Legacy_Concept_Name
  • Hereditary_Hemorrhagic_Telangiectasia
FULL_SYN
  • Osler-Weber-Rendu DiseaseSYNCI
  • Telangiectasia, Hereditary Hemorrahagic, of Rendu, OslerSYNCI
  • Hereditary Hemorrhagic TelangiectasiaPTNCI
DEFINITION
  • An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.NCI
code
  • C35064
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, 18 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software