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

Uniprot Description A X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.

Disease Ontology Description An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX).