Term Name: | amelogenesis imperfecta type 2A1 |
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Synonyms: | AI2A1, amelogenesis imperfecta pigmented hypomaturation type 1, amelogenesis imperfecta type IIA1 |
Definition: | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. |
Ontology: | Human Disease [DOID:0110057] ( DOID:0110057 ) |