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Disease Ontology Browser
amelogenesis imperfecta type 2A1 (DOID:0110057)
Alliance: disease page
Synonyms: AI2A1; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type IIA1
Alt IDs: OMIM:204700, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory