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Summary Literature (0)
DOID:0110058 - amelogenesis imperfecta type 1E

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).

Synonyms: AIH1, amelogenesis imperfecta hypomaturationtype with snow-capped teeth, amelogenesis imperfecta type IE, X-linked amelogenesis imperfecta 1, X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1, X-linked enamel hypoplasia

Xenbase Genes : amelx

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010521 - electroreceptor organ

MIM:
MIM:301200 - AMELOGENESIS IMPERFECTA, TYPE IE; AI1E

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), X-linked dominant disease (is_a)