Term Name: | X-linked thrombophilia due to factor IX defect |
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Synonyms: | THPH8 |
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. |
Ontology: | Human Disease [DOID:0111899] ( DOID:0111899 ) |