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Disease Ontology Browser
amelogenesis imperfecta type 1B (DOID:0110052)
Alliance: disease page
Synonyms: AI1B; AIH2; amelogenesis imperfecta type IB; autosomal dominant hypoplastic local amelogenesis imperfecta; hereditary localized enamel hypoplasia
Alt IDs: OMIM:104500, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.

Disease References using Mouse Models (3)
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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09/30/2025
MGI 6.24 		The Jackson Laboratory