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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 |
|---|---|---|---|
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 811 | CALR | calreticulin | |
| 929 | CD14 | CD14 molecule | |
| 933 | CD22 | CD22 molecule | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 962 | CD48 | CD48 molecule | |
| 1012 | CDH13 | cadherin 13 | |
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 1116 | CHI3L1 | chitinase 3 like 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15147 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q5QGZ9 | C-type lectin domain family 12 member A | |
| Q6ZVN8 | Hemojuvelin | |
| Q7L1S5 | Carbohydrate sulfotransferase 9 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 | |
| Q8N6Q3 | CD177 antigen | |
| Q8NBL1 | Protein O-glucosyltransferase 1 | |
| Q8WWQ2 | Inactive heparanase-2 | |
| Q92819 | Hyaluronan synthase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008320 | Impaired collagen-induced platelet aggregation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0008148 | Impaired epinephrine-induced platelet aggregation |
