Amelogenesis imperfecta type 1E

Definition

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

Also known as AIH1, amelogenesis imperfecta caused by mutation in AMELX, amelogenesis imperfecta, type 1E, X-linked dominant, AMELX amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110058 per MONDO
• OMIM 301200 per MONDO
• UMLS C1845053 per MONDO