| Metadata | |
|---|---|
| ID | DOID:0111899 |
| Name | X-linked thrombophilia due to factor IX defect |
| 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/ |
| Xrefs | |
| Synonyms |
THPH8 [EXACT] |
| Parent Relationships |
is_a thrombophilia |