Amelogenesis imperfecta type 2A1

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.

Also known as AI2A1, amelogenesis imperfecta caused by mutation in KLK4, amelogenesis imperfecta, type IIA1, KLK4 amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110057 per MONDO
• MESH C538242 per MONDO
• MESH C567146 per MONDO
• OMIM 204700 per MONDO
• UMLS C2673922 per MONDO