Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 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 |
|---|---|---|
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P13807 | Glycogen [starch] synthase, muscle | |
| P15289 | Arylsulfatase A | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P16581 | E-selectin | |
| P17931 | Galectin-3 | |
| P19174 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 |
- 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 |
