familial erythrocytosis 3

Summary
Synonym
  • ECYT3
Definition
A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.
Super Class
autosomal dominant disease primary polycythemia
Disease Ontology
DOID:0080338
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
112405 Egln1 egl-9 family hypoxia-inducible factor 1

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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: December 9, 2024