Loeys-Dietz syndrome 3 Disease Ontology Browser

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Disease Ontology Browser

Loeys-Dietz syndrome 3 (DOID:0070237)
Alliance: disease page
Synonyms: aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Loeys-Dietz syndrome type 1C; Loeys-Dietz syndrome with osteoarthritis
Alt IDs: OMIM:613795
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.

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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