Amelogenesis imperfecta hypomaturation type 2A3

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.

Also known as AI2A3, amelogenesis imperfecta caused by mutation in WDR72, amelogenesis imperfecta hypomaturation type 2A3, amelogenesis imperfecta, type IIA3, WDR72 amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110061 per MONDO
• MESH C567706 per MONDO
• OMIM 613211 per MONDO
• UMLS C2750771 per MONDO