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Summary Literature (1)
DOID:0050466 - Loeys-Dietz syndrome


Disease Ontology 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.

Synonyms:

Xenbase Genes : tgfbr1, tgfb2, smad3, tgfbr2, tgfbr2l

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018954 - Loeys-Dietz syndrome

OMIM:
OMIM:610168 - LOEYS-DIETZ SYNDROME 2; LDS2
OMIM:613795 - LOEYS-DIETZ SYNDROME 3; LDS3
OMIM:614816 - LOEYS-DIETZ SYNDROME 4; LDS4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)