FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked thrombophilia due to factor IX defect ID (Ontology) DOID:0111899 (Human Disease)
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.
Also Known As "THPH8"
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DO.org
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 Genes
 X-linked thrombophilia due to factor IX defect       1
 for disease ribbon | X-linked thrombophilia due to factor IX defect       1
 model of | X-linked thrombophilia due to factor IX defect       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
blood coagulation disease       |
 |__thrombophilia_______________|
                                X-linked thrombophilia due to factor IX defect  1 rec.
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Is a X-linked monogenic disease
thrombophilia
Part of
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Synonyms
  • "THPH8" EXACT OMO:0003012
Secondary IDs
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MESH:C567581
MIM:300807
UMLS_CUI:C2749016