X-linked thrombophilia due to factor IX defect

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Summary

Literature (0)

DOID:0111899 - X-linked thrombophilia due to factor IX defect

Disease Ontology Definition:A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.

Synonyms: THPH8

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

: f9

MIM:

MIM:300807 - THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8

MIM:300807 - THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8

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

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

Parent(s): thrombophilia (is_a), X-linked monogenic disease (is_a)