Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
primary familial polycythemia due to EPO receptor mutation
MONDO:0007572
acquired polycythemia vera
MONDO:0009891
Chuvash polycythemia
MONDO:0009892
erythrocytosis, familial, 4
MONDO:0012729
erythrocytosis, familial, 5
MONDO:0033483
erythrocytosis, familial, 6
MONDO:0054801