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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 3948 | LDHC | lactate dehydrogenase C | |
| 3958 | LGALS3 | galectin 3 | |
| 3965 | LGALS9 | galectin 9 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase |
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:0001892 | Abnormal bleeding |
| HP:0100576 | Amaurosis fugax |
| HP:0002315 | Headache |
| HP:0004936 | Venous thrombosis |
| HP:0000505 | Visual impairment |
| HP:0003010 | Prolonged bleeding time |
| HP:0011974 | Myelofibrosis |
| HP:0001894 | Thrombocytosis |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0002321 | Vertigo |
