thrombophilia due to thrombin defect

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Summary

Literature (0)

DOID:0111907 - thrombophilia due to thrombin defect

Disease Ontology Definition:A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.

Synonyms: prothrombin-related thrombophilia, thrombophilia due to factor 2 defect, THPH1

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

: f2, habp2, f13a1, mthfr

MIM:

MIM:188050 - THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

MIM:188050 - THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

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

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

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