thrombophilia due to HRG deficiency

Term ID

DOID:0111903

Synonyms

• hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• hereditary thrombophilia due to congenital HRG deficiency
• THPH11

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. (2)

References

• OMIM:613116
• ORDO:217467
• UMLS_CUI:C2751090

Ontology

Human Disease   ( DOID:0111903 )