Term Name: amelogenesis imperfecta type 1H
Synonyms: AI1H, amelogenesis imperfecta type IH
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
Ontology: Human Disease [DOID:0110064]   ( DOID:0110064 )

Relationships
is a type of: amelogenesis imperfecta autosomal recessive disease