Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.

Uniprot Description A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored.

Disease Ontology Description An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.