About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
11/22/2022
MGI 6.22
The Jackson Laboratory