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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:0018954 - Loeys-Dietz syndrome |
| MIM:610168 - LOEYS-DIETZ SYNDROME 2; LDS2 |
| MIM:613795 - LOEYS-DIETZ SYNDROME 3; LDS3 |
| MIM:614816 - LOEYS-DIETZ SYNDROME 4; LDS4 |
Other Model Organisms: Alliance, 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)