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Loeys-Dietz Syndrome Type 1

Go to external page http://purl.obolibrary.org/obo/NCIT_C75119

A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. [ ]

Term info

Label

Loeys-Dietz Syndrome Type 1

Synonyms
  • Loeys-Dietz Syndrome Type 1
Legacy Concept Name

Loeys_Dietz_Syndrome_Type_1

Preferred Name

Loeys-Dietz Syndrome Type 1

Semantic Type

Disease or Syndrome

UMLS CUI

C2697933

code

C75119

Term relations