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amelogenesis imperfecta type 2A6
Summary
- Synonym
-
- 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.
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080960
- Mondo Disease Ontology
- OMIM
