OBO ID: DOID:0050466
Term Name: Loeys-Dietz syndrome Search Ontology:
Synonyms:
Definition: An autosomal dominant disease 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:
Ontology: Human Disease   (DOID:0050466)
Relationships
is a type of:
has subtype:
OTHER Loeys-Dietz syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMAD3 Loeys-Dietz syndrome 3 613795
TGFB2 Loeys-Dietz syndrome 4 614816
TGFBR1 Loeys-Dietz syndrome 1 609192
TGFBR2 Loeys-Dietz syndrome 2 610168
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None