OBO ID: DOID:0111899
Term Name: X-linked thrombophilia due to factor IX defect Search Ontology:
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 X-linked thrombophilia due to factor IX defect PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
F9 {Deep venous thrombosis, protection against} 300807
Thrombophilia 8, X-linked, due to factor IX defect 300807
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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