About: Loeys-Dietz Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Loeys-Dietz Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Loeys-Dietz Syndrome
UMLS_CUI
  • C2697932
Legacy_Concept_Name
  • Loeys_Dietz_Syndrome
FULL_SYN
  • Loeys-Dietz SyndromePTNCI
DEFINITION
  • A rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones.NCI
code
  • C75006
is rdfs:subClassOf of
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