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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:0002140 | Ischemic stroke |
| HP:0002326 | Transient ischemic attack |
| HP:0002616 | Aortic root aneurysm |
| HP:0002647 | Aortic dissection |
| HP:0002650 | Scoliosis |
| HP:0002705 | High, narrow palate |
| HP:0002875 | Exertional dyspnea |
| HP:0003549 | Abnormality of connective tissue |
| HP:0004933 | Ascending aortic dissection |
| HP:0004944 | Dilatation of the cerebral artery |
