thrombophilia due to HRG deficiency (DOID:0111903)
Alliance: disease page
Synonyms: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency; hereditary thrombophilia due to congenital HRG deficiency; THPH11
Alt IDs: OMIM:613116, ORDO:217467, UMLS_CUI:C2751090
Definition: A 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.