Term Name: amelogenesis imperfecta type 2A6
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.
Ontology: Human Disease [DOID:0080960]   ( DOID:0080960 )

Relationships
is a type of: amelogenesis imperfecta autosomal recessive disease