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X-linked thrombophilia due to factor IX defect
Summary
- Synonym
-
- 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.
- Super Class
- X-linked monogenic disease thrombophilia
External Links
- Disease Ontology
- DOID:0111899
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
