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Summary Literature (0)
DOID:0110064 - amelogenesis imperfecta type 1H

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.

Synonyms: AI1H, amelogenesis imperfecta type IH

Xenbase Genes : itgb6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014540 - amelogenesis imperfecta type 1H


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)