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DO Term : thrombophilia due to HRG deficiency [DOID:0111903] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C2751090,
  • ORDO:217467,
  • OMIM:613116,
  • hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,
  • THPH11,
  • 613116,
  • hereditary thrombophilia due to congenital HRG deficiency
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