amelogenesis imperfecta type 3B

Term ID

DOID:0080243

Synonyms

Definition

An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. https://pubmed.ncbi.nlm.nih.gov/27412008/

References

• OMIM:617607

Ontology

Human Disease   ( DOID:0080243 )