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: autosomal dominant disease syndrome

autosomal dominant disease syndrome Show first 5 Terms
has subtype: Loeys-Dietz syndrome 1 Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 3 Loeys-Dietz syndrome 4 Loeys-Dietz syndrome 5

Loeys-Dietz syndrome 1 Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 3 Loeys-Dietz syndrome 4 Loeys-Dietz syndrome 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations