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MIRAGE
familial erythrocytosis 5

Summary
Synonym
  • ECYT5
Definition
A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
Super Class
autosomal dominant disease primary polycythemia
Disease Ontology
DOID:0080290
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2056 EPO erythropoietin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P01588 Erythropoietin
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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: April 7, 2025