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Disease Ontology Browser
X-linked thrombophilia due to factor IX defect (DOID:0111899)
Alliance: disease page
Synonyms: THPH8
Alt IDs: OMIM:300807, MESH:C567581, UMLS_CUI:C2749016
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory