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Loeys-Dietz syndrome 4
Summary
- Synonym
-
- Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
- LDS4
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
- Super Class
- Loeys-Dietz syndrome
External Links
- Disease Ontology
- DOID:0070233
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0200146 | Mucoid extracellular matrix accumulation |
