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Dystransthyretinemic Hyperthyroxinemia

Disease ID: disease_node_14391

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DbxrefMIM:145680
SubclassofDOID_0050736, DOID_2855
Data SourceDOID
Doid Labeldystransthyretinemic hyperthyroxinemia
Doid DescriptionA hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_14391
Doid IdDOID_0080219
LabelDystransthyretinemic Hyperthyroxinemia