Mondo Description Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.
Uniprot Description An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).
Disease Ontology Description An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
Mondo Term and Equivalent IDs
MONDO:0007092: amelogenesis imperfecta type 1B