bleeding diathesis due to thromboxane synthesis deficiency
MONDO:0800446Mondo
Findings
No curated finding names bleeding diathesis due to thromboxane synthesis deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).
Definition from the Mondo Disease Ontology (MONDO:0800446), read 2026-09-29. CC BY 4.0.