Term Name: X-linked thrombophilia due to factor IX defect
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 )

Relationships
is a type of: thrombophilia X-linked monogenic disease