Amelogenesis imperfecta hypomaturation type 2A2

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.

Also known as AI2A2, amelogenesis imperfecta caused by mutation in MMP20, amelogenesis imperfecta, type IIA2, MMP20 amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110060 per MONDO
• MESH C567279 per MONDO
• OMIM 612529 per MONDO
• UMLS C2675858 per MONDO