Loeys-Dietz syndrome 2 Disease Ontology Browser

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Disease Ontology Browser

Loeys-Dietz syndrome 2 (DOID:0070234)
Alliance: disease page
Synonyms: AAT3; familial throacic aortic aneurysm 3; LDS2; Marfan syndrome type II
Alt IDs: OMIM:610168
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

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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