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Summary Literature (0)
DOID:0110052 - amelogenesis imperfecta type 1B

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.

Synonyms: AI1B, AIH2, amelogenesis imperfecta type IB, autosomal dominant hypoplastic local amelogenesis imperfecta, hereditary localized enamel hypoplasia

Xenbase Genes : enam

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007092 - amelogenesis imperfecta type 1B

MIM:
MIM:104500 - AMELOGENESIS IMPERFECTA, TYPE IB; AI1B

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amelogenesis imperfecta (is_a), autosomal dominant disease (is_a)