amelogenesis imperfecta type 2A6

Term ID

DOID:0080960

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. https://pubmed.ncbi.nlm.nih.gov/3150442/

References

• OMIM:617217

Ontology

Human Disease   ( DOID:0080960 )