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Metadata
ID DOID:0110056
Name amelogenesis imperfecta type 1C
Definition An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
https://www.ncbi.nlm.nih.gov/pubmed/14684688
Xrefs

ICD10CM:K00.5

MIM:204650

Synonyms

AI1C [EXACT]

amelogenesis imperfecta type IC [EXACT]

autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion [EXACT]

autosomal recessive amelogenesis imperfecta local hypoplastic type [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

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