Symphalangism, proximal, 1B

Definition

Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.

Also known as GDF5 proximal symphalangism (disease), proximal symphalangism (disease) caused by mutation in GDF5, symphalangism, proximal, 1B, symphalangism, proximal, type 1B — per MONDO

Also identified as

• DOID 0080788 per MONDO
• OMIM 615298 per MONDO
• UMLS C3809104 per MONDO