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Summary Literature (0)
DOID:0110055 - amelogenesis imperfecta type 3A

Disease Ontology Definition:An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.

Synonyms: AI3, amelogenesis imperfecta hypomineralization type, autosomal dominant amelogenesis imperfecta hypocalcification type, ADHCAI, amelogenesis imperfecta type III

Xenbase Genes : slc24a4, itgb6, fam83h

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007538 - amelogenesis imperfecta, type 3A

MIM:
MIM:130900 - AMELOGENESIS IMPERFECTA, TYPE IIIA; AI3A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): amelogenesis imperfecta (is_a), amelogenesis imperfecta type 3 (is_a), autosomal dominant disease (is_a)