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essential thrombocythemia
Summary
- Synonym
-
- Essential thrombocythaemia
- familial thrombocytosis
- hemorrhagic thrombocythemia
- hereditary thrombocythemia
- primary Thrombocytosis
- Definition
- A myeloproliferative neoplasm that 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 and that results_in the overproduction of platelets.
- Super Class
- myeloproliferative neoplasm
External Links
- Disease Ontology
- DOID:2224
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12317 | Calr | calreticulin | |
| 12491 | Cd36 | CD36 molecule | |
| 17480 | Mpl | myeloproliferative leukemia virus oncogene | |
| 17863 | Myb | myeloblastosis oncogene | |
| 21832 | Thpo | thrombopoietin | |
| 21947 | Cd40lg | CD40 ligand | |
| 22329 | Vcam1 | vascular cell adhesion molecule 1 | |
| 22371 | Vwf | Von Willebrand factor | |
| 50701 | Elane | elastase, neutrophil expressed |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005561 | Abnormal bone marrow cell morphology |
| HP:0011875 | Abnormal platelet morphology |
| HP:0011974 | Myelofibrosis |
| HP:0012143 | Abnormal megakaryocyte morphology |
| HP:0012378 | Fatigue |
| HP:0100576 | Amaurosis fugax |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0100749 | Chest pain |
| HP:0100785 | Insomnia |
| HP:0000006 | Autosomal dominant inheritance |
