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Amelogenesis Imperfecta Type 1E

Disease ID: disease_node_18103

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DbxrefICD10CM:K00.5, MIM:301200
SubclassofDOID_0080009, DOID_2187
Data SourceDOID
SynonymsAIH1, X-linked amelogenesis imperfecta 1, X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1, amelogenesis imperfecta hypomaturationtype with snow-capped teeth, amelogenesis imperfecta type IE, X-linked enamel hypoplasia
Doid Labelamelogenesis imperfecta type 1E
Doid DescriptionAn amelogenesis imperfecta that has_material_basis_in X-linked domit mutation in the gene encoding amelogenin (AMELX).
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_18103
Doid IdDOID_0110058
LabelAmelogenesis Imperfecta Type 1E