Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111899 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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