Term Name: | amelogenesis imperfecta type 1H |
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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 ) |