Term Name: | amelogenesis imperfecta type 1A |
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Synonyms: | AI1A, amelogenesis imperfecta hypoplastic type IA, amelogenesis imperfecta type IA |
Definition: | An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. |
Ontology: | Human Disease [DOID:0110054] ( DOID:0110054 ) |