Term Name: | amelogenesis imperfecta hypomaturation type 2A5 |
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Synonyms: | AI2A5, amelogenesis imperfecta hypomaturation type IIA5, amelogenesis imperfecta type IIA5 |
Definition: | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. |
Ontology: | Human Disease [DOID:0110063] ( DOID:0110063 ) |