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

Uniprot Description A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.

Disease Ontology Description An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.