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Disease Ontology Browser
Loeys-Dietz syndrome (DOID:0050466)
Alliance: disease page
Alt IDs: MESH:D055947, NCI:C75006, ORDO:60030, UMLS_CUI:C1836635, UMLS_CUI:C2697932
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory