Term Name: | Loeys-Dietz syndrome 6 |
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Synonyms: | |
Definition: | A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. |
Ontology: | Human Disease [DOID:0060964] ( DOID:0060964 ) |