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Metadata
ID DOID:0110052
Name amelogenesis imperfecta type 1B
Definition An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
https://www.ncbi.nlm.nih.gov/pubmed/11487571
Xrefs

ICD10CM:K00.5

OMIM:104500

Synonyms

AI1B [EXACT]

AIH2 [EXACT]

amelogenesis imperfecta type IB [EXACT]

autosomal dominant hypoplastic local amelogenesis imperfecta [EXACT]

hereditary localized enamel hypoplasia [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal dominant disease

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