Brachydactyly type A1C

Definition

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.

Also known as BDA1C, brachydactyly type A1 caused by mutation in GDF5, GDF5 brachydactyly type A1 — per MONDO

Also identified as

• DOID 0110977 per MONDO
• OMIM 615072 per MONDO
• UMLS C3554446 per MONDO