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Autosomal Domit Thrombophilia Due To Protein S Deficiency

Disease ID: disease_node_15584

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DbxrefMIM:612336, UMLS_CUI:C3278211
SubclassofDOID_0050736, DOID_2451
Data SourceDOID
SynonymsTHPH5
Doid Labelautosomal domit thrombophilia due to protein S deficiency
Doid DescriptionA protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15584
Doid IdDOID_0111900
LabelAutosomal Domit Thrombophilia Due To Protein S Deficiency