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thrombophilia due to HRG deficiency
Summary
- Synonym
-
- THPH11
- hereditary thrombophilia due to congenital HRG deficiency
- hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
- 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.
- Super Class
- autosomal dominant disease thrombophilia
External Links
- Disease Ontology
- DOID:0111903
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
