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Thrombophilia Due To Thrombin Defect

Disease ID: disease_node_17041

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DbxrefGARD:10815, MIM:188050, UMLS_CUI:C3160733
SubclassofDOID_0050736, DOID_2452
Data SourceDOID
SynonymsTHPH1, prothrombin-related thrombophilia, thrombophilia due to factor 2 defect
Doid Labelthrombophilia due to thrombin defect
Doid DescriptionA thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17041
Doid IdDOID_0111907
LabelThrombophilia Due To Thrombin Defect