Term Name: | amelogenesis imperfecta hypomaturation type 2A2 |
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Synonyms: | AI2A2, amelogenesis imperfecta hypomaturation type IIA2, amelogenesis imperfecta pigmented hypomaturation type 2, amelogenesis imperfecta type IIA2 |
Definition: | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). |
Ontology: | Human Disease [DOID:0110060] ( DOID:0110060 ) |