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Summary Literature (0)
DOID:0080960 - amelogenesis imperfecta type 2A6

Disease Ontology Definition:An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.

Synonyms: Amelogenesis imperfecta, hypomaturation type, IIA6,

Xenbase Genes :



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 recessive disease (is_a)