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Thrombophilia Due To Hrg Deficiency

Disease ID: disease_node_17042

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DbxrefMIM:613116, ORDO:217467, UMLS_CUI:C2751090
SubclassofDOID_2452, DOID_0050736
Data SourceDOID
SynonymsTHPH11, hereditary thrombophilia due to congenital HRG deficiency, hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Doid Labelthrombophilia due to HRG deficiency
Doid DescriptionA thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17042
Doid IdDOID_0111903
LabelThrombophilia Due To Hrg Deficiency