Loeys-Dietz Syndrome 6
Disease ID: disease_node_20178
Connections displayed (default: 10).
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| Dbxref | MIM:619656 |
|---|---|
| Subclassof | DOID_0050466 |
| Data Source | DOID |
| Doid Label | Loeys-Dietz syndrome 6 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20178 |
| Doid Id | DOID_0060964 |
| Label | Loeys-Dietz Syndrome 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome(ID:disease_node_12127) (Disease)