Term Name: | amelogenesis imperfecta type 2A6 |
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Synonyms: | Amelogenesis imperfecta, hypomaturation type, IIA6 |
Definition: | An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. |
Ontology: | Human Disease [DOID:0080960] ( DOID:0080960 ) |