Term Name: Loeys-Dietz syndrome 5
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 )

Relationships
is a type of: Loeys-Dietz syndrome