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
Displaying entries 11 - 20 of 97 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
41166 Calr Calreticulin
The Human Phenotype Ontology
Displaying entries 31 - 33 of 33 in total
HPO ID HPO Term
HP:0008320 Impaired collagen-induced platelet aggregation
HP:0000006 Autosomal dominant inheritance
HP:0008148 Impaired epinephrine-induced platelet aggregation
Displaying 1 entry
Gene ID Gene Symbol Description
811 CALR calreticulin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024