Multiple synostoses syndrome 2

Definition

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.

Also known as GDF5 multiple synostoses syndrome, multiple synostoses syndrome 2, multiple synostoses syndrome caused by mutation in GDF5, multiple synostoses syndrome type 2 — per MONDO

Also identified as

• DOID 0081318 per MONDO
• MESH C537380 per MONDO
• OMIM 610017 per MONDO
• UMLS C1832708 per MONDO