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Summary Literature (0)
DOID:0110063 - amelogenesis imperfecta hypomaturation type 2A5

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.

Synonyms: AI2A5, amelogenesis imperfecta hypomaturation type IIA5, amelogenesis imperfecta type IIA5

Xenbase Genes : slc24a4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014385 - amelogenesis imperfecta hypomaturation type 2A5


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)