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Metadata
ID DOID:0110054
Name amelogenesis imperfecta type 1A
Definition An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.
https://www.ncbi.nlm.nih.gov/pubmed/23632796, https://www.ncbi.nlm.nih.gov/pubmed/23958762
Xrefs

ICD10CM:K00.5

OMIM:104530

Synonyms

AI1A [EXACT]

amelogenesis imperfecta hypoplastic type IA [EXACT]

amelogenesis imperfecta type IA [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal dominant disease

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