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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:0001297 | Stroke |
| HP:0001640 | Cardiomegaly |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001659 | Aortic regurgitation |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001763 | Pes planus |
| HP:0002105 | Hemoptysis |
| HP:0002107 | Pneumothorax |
| HP:0002138 | Subarachnoid hemorrhage |
