essential thrombocythemia
MONDO:0005029Mondo
Findings
No curated finding names essential thrombocythemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)
Definition from the Mondo Disease Ontology (MONDO:0005029), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Abnormal bone marrow cell morphologyHPOHP:0005561
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Very frequent (80% to 99% of cases)
- Abnormal platelet morphologyHPOHP:0011875
- Very frequent (80% to 99% of cases)
- Abnormality of thrombocytesHPOHP:0001872
- Very frequent (80% to 99% of cases)
- Amaurosis fugaxHPOHP:0100576
- Very frequent (80% to 99% of cases)
- Arterial thrombosisHPOHP:0004420
- Very frequent (80% to 99% of cases)
- Chest painHPOHP:0100749
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Increased megakaryocyte countHPOHP:0005513
- Very frequent (80% to 99% of cases)
- Megakaryocyte nucleus hyperlobulationHPOHP:0031388
- Very frequent (80% to 99% of cases)
- Myocardial infarctionHPOHP:0001658
- Very frequent (80% to 99% of cases)
- ParesthesiaHPOHP:0003401
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Prolonged bleeding timeHPOHP:0003010
- Very frequent (80% to 99% of cases)
- ThrombocytosisHPOHP:0001894
- Very frequent (80% to 99% of cases)
- Venous thrombosisHPOHP:0004936
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- InsomniaHPOHP:0100785
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: essential thrombocythemia
- Also called
- essential thrombocytemiaessential thrombocytosisprimary thrombocythemiaprimary thrombocytosis