Term Name: | Loeys-Dietz syndrome 1 |
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Synonyms: | AAT5, familial throacic aortic aneurysm 5, Furlong syndrome, LDS1 |
Definition: | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. |
Ontology: | Human Disease [DOID:0070235] ( DOID:0070235 ) |