Term Name: | amelogenesis imperfecta type 1F |
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Synonyms: | AI1F, amelogenesis imperfecta hypoplastic type IF, amelogenesis imperfecta type IF |
Definition: | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. |
Ontology: | Human Disease [DOID:0110065] ( DOID:0110065 ) |