Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.

Also known as AI4, AIHHT, amelogenesis imperfecta caused by mutation in DLX3, amelogenesis imperfecta type 4, DLX3 amelogenesis imperfecta — per MONDO

Also identified as

• DOID 0110053 per MONDO
• MESH C566293 per MONDO
• OMIM 104510 per MONDO
• Orphanet 100034 per MONDO
• UMLS C1863012 per MONDO