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Disease Ontology Browser
amelogenesis imperfecta type 1E (DOID:0110058)
Alliance: disease page
Synonyms: AIH1; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type IE; X-linked amelogenesis imperfecta 1; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked enamel hypoplasia
Alt IDs: OMIM:301200, ICD10CM:K00.5
Definition: An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).

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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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory