amelogenesis imperfecta type 1B

Term ID

DOID:0110052

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/11487571

References

• ICD10CM:K00.5
• OMIM:104500

Ontology

Human Disease   ( DOID:0110052 )