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amelogenesis imperfecta type 1B
Summary
- Synonym
-
- AI1B
- AIH2
- amelogenesis imperfecta type IB
- autosomal dominant hypoplastic local amelogenesis imperfecta
- hereditary localized enamel hypoplasia
- Definition
- An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
- Super Class
- amelogenesis imperfecta autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110052
- Mondo Disease Ontology
- OMIM
