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Loeys-Dietz syndrome 5
Summary
- Synonym
-
- LDS5
- RNHF
- Reinhoff syndrome
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
- Super Class
- Loeys-Dietz syndrome
External Links
- Disease Ontology
- DOID:0070236
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004950 | Peripheral arterial stenosis |
| HP:0004959 | Descending thoracic aorta aneurysm |
| HP:0005112 | Abdominal aortic aneurysm |
| HP:0005162 | Abnormal left ventricular function |
| HP:0011106 | Hypovolemia |
| HP:0012163 | Carotid artery dilatation |
| HP:0012499 | Descending aortic dissection |
| HP:0012763 | Paroxysmal dyspnea |
| HP:0100749 | Chest pain |
| HP:0100775 | Dural ectasia |
