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Metadata
ID DOID:0110064
Name amelogenesis imperfecta type 1H
Definition An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
https://www.ncbi.nlm.nih.gov/pubmed/24305999, https://www.ncbi.nlm.nih.gov/pubmed/24319098
Xrefs

ICD10CM:K00.5

MIM:616221

Synonyms

AI1H [EXACT]

amelogenesis imperfecta type IH [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

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