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Disease Ontology Browser
Loeys-Dietz syndrome 1 (DOID:0070235)
Alliance: disease page
Synonyms: AAT5; familial throacic aortic aneurysm 5; Furlong syndrome; LDS1
Alt IDs: OMIM:609192
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.

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