thrombophilia due to HRG deficiency

Summary

DOID:0111903 - thrombophilia due to HRG deficiency

Disease Ontology 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.

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

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

: hrg

MIM:

MIM:613116 - THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11

MIM:613116 - THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11

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)