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Disease Ontology Browser
amelogenesis imperfecta type 1H (DOID:0110064)
Alliance: disease page
Synonyms: AI1H; amelogenesis imperfecta type IH
Alt IDs: OMIM:616221, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory