X-linked thrombophilia due to factor IX defect

Term ID

DOID:0111899

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. https://pubmed.ncbi.nlm.nih.gov/19846852/

References

• MESH:C567581
• OMIM:300807
• UMLS_CUI:C2749016

Ontology

Human Disease   ( DOID:0111899 )