Term Name: | Loeys-Dietz syndrome 5 |
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Synonyms: | LDS5, Reinhoff syndrome, RNHF |
Definition: | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. |
Ontology: | Human Disease [DOID:0070236] ( DOID:0070236 ) |