Term Name: | amelogenesis imperfecta type 1B |
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Synonyms: | AI1B, AIH2, amelogenesis imperfecta type IB, autosomal dominant hypoplastic local amelogenesis imperfecta, hereditary localized enamel hypoplasia |
Definition: | An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. |
Ontology: | Human Disease [DOID:0110052] ( DOID:0110052 ) |