Term Name: amelogenesis imperfecta type 2A1
Synonyms: AI2A1, amelogenesis imperfecta pigmented hypomaturation type 1, amelogenesis imperfecta type IIA1
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
Ontology: Human Disease [DOID:0110057]   ( DOID:0110057 )

Relationships
is a type of: amelogenesis imperfecta autosomal recessive disease