| Metadata | |
|---|---|
| ID | DOID:0070236 |
| Name | Loeys-Dietz syndrome 5 |
| Definition | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/23824657, https://www.ncbi.nlm.nih.gov/pubmed/25835445 |
| Xrefs | |
| Synonyms |
LDS5 [EXACT] Reinhoff syndrome [EXACT] RNHF [EXACT] |
| Parent Relationships |
is_a Loeys-Dietz syndrome |