thrombophilia
MONDO:0002305Mondo
Findings
No curated finding names thrombophilia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.
Definition from the Mondo Disease Ontology (MONDO:0002305), read 2026-09-29. CC BY 4.0.
Genes
3 genes
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.
- FGAHGNC:3661
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- FGBHGNC:3662
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- FGGHGNC:3694
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: thrombophilia
- Also called
- excessive blood clottinghypercoagulabilityhypercoagulability statehypercoagulable