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Summary Literature (0)
DOID:0110057 - amelogenesis imperfecta type 2A1

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.

Synonyms: AI2A1, amelogenesis imperfecta pigmented hypomaturation type 1, amelogenesis imperfecta type IIA1

Xenbase Genes : mmp20

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008772 - amelogenesis imperfecta type 2A1


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)