Amelogenesis imperfecta hypomaturation type 2A5

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.

Also known as AI2A5, amelogenesis imperfecta caused by mutation in SLC24A4, amelogenesis imperfecta, type IIA5, SLC24A4 amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110063 per MONDO
• OMIM 615887 per MONDO
• UMLS C4014578 per MONDO