OBO ID: DOID:0050466
Term Name: Loeys-Dietz syndrome Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome
References:
  • GARD:10788
  • MESH:D055947
  • NCI:C75006
  • ORDO:60030
  • SNOMEDCT_US_2023_03_01:446263001
  • UMLS_CUI:C1836635
  • UMLS_CUI:C2697932
Ontology: Human Disease   ( DOID:0050466 )
OTHER Loeys-Dietz syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None