thrombophilia, X-linked, due to factor 9 defect
MONDO:0010432Mondo
Findings
No curated finding names thrombophilia, X-linked, due to factor 9 defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Deep venous thrombosisHPOHP:0002625
- 1 of 1 reported patient
- Increased factor IX activityHPOHP:0033061
- 1 of 1 reported patient
- HypercoagulabilityHPOHP:0100724
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F9HGNC:3551
- Strong · PanelApp Australia · X-linked · 2025
- Limited · ClinGen · X-linked · 2023
- Limited · Natera · Unknown · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: thrombophilia, X-linked, due to factor 9 defect
- Also called
- deep venous thrombosis, protection against, X-linked recessivethrombophilia 8, X-linked, due to factor IX defect, X-linked recessivethrombophilia, X-linked, due to factor IX defect