Loeys-Dietz Syndrome 3
Disease ID: disease_node_20173
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| Dbxref | MIM:613795 |
|---|---|
| Subclassof | DOID_0050466 |
| Data Source | DOID |
| Synonyms | LDS1C, LDS3, Loeys-Dietz syndrome type 1C, Loeys-Dietz syndrome with osteoarthritis, aneurysms-osteoarthritis syndrome |
| Doid Label | Loeys-Dietz syndrome 3 |
| Doid Description | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. |
| Disease Node Id | disease_node_20173 |
| Doid Id | DOID_0070237 |
| Label | Loeys-Dietz Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome(ID:disease_node_12127) (Disease)