Term Name: | amelogenesis imperfecta type 1E |
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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 |
Definition: | An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). |
Ontology: | Human Disease [DOID:0110058] ( DOID:0110058 ) |