heparin cofactor II deficiency

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Summary

Literature (0)

DOID:0111901 - heparin cofactor II deficiency

Disease Ontology Definition:A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.

Synonyms: HCF 2 deficiency, HCF II deficiency, THPH10, thrombophilia due to heparin cofactor II deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: serpind1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), thrombophilia (is_a)