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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 |
|---|---|---|---|
| 83539 | CHST9 | carbohydrate sulfotransferase 9 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 148738 | HJV | hemojuvelin BMP co-receptor | |
| 160364 | CLEC12A | C-type lectin domain family 12 member A | |
| 283871 | PGP | phosphoglycolate phosphatase | |
| 347527 | ARSH | arylsulfatase family member H | |
| 653509 | SFTPA1 | surfactant protein A1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20273 | B-cell receptor CD22 | |
| P20815 | Cytochrome P450 3A5 | |
| P22083 | Alpha-(1,3)-fucosyltransferase 4 | |
| P22303 | Acetylcholinesterase | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P27797 | Calreticulin |
- 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 |
