Loeys-Dietz Syndrome 1
Disease ID: disease_node_20175
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| Dbxref | MIM:609192 |
|---|---|
| Subclassof | DOID_0050466 |
| Data Source | DOID |
| Synonyms | AAT5, Furlong syndrome, LDS1, familial throacic aortic aneurysm 5 |
| Doid Label | Loeys-Dietz syndrome 1 |
| Doid Description | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. |
| Disease Node Id | disease_node_20175 |
| Doid Id | DOID_0070235 |
| Label | Loeys-Dietz Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome(ID:disease_node_12127) (Disease)