Search Ontology:
Human Disease

Loeys-Dietz syndrome

Term ID
DOID:0050466
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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models