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Amelogenesis Imperfecta Type 1C

Disease ID: disease_node_18105

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DbxrefICD10CM:K00.5, MIM:204650
SubclassofDOID_0050737, DOID_2187
Data SourceDOID
SynonymsAI1C, amelogenesis imperfecta type IC, autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion, autosomal recessive amelogenesis imperfecta local hypoplastic type
Doid Labelamelogenesis imperfecta type 1C
Doid DescriptionAn amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_18105
Doid IdDOID_0110056
LabelAmelogenesis Imperfecta Type 1C