Term Name: amelogenesis imperfecta hypomaturation type 2A2
Synonyms: AI2A2, amelogenesis imperfecta hypomaturation type IIA2, amelogenesis imperfecta pigmented hypomaturation type 2, amelogenesis imperfecta type IIA2
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
Ontology: Human Disease [DOID:0110060]   ( DOID:0110060 )

Relationships
is a type of: amelogenesis imperfecta autosomal recessive disease