Term Name: | Loeys-Dietz syndrome 3 |
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Synonyms: | aneurysms-osteoarthritis syndrome, LDS1C, LDS3, Loeys-Dietz syndrome type 1C, Loeys-Dietz syndrome with osteoarthritis |
Definition: | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. |
Ontology: | Human Disease [DOID:0070237] ( DOID:0070237 ) |