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erythrocytosis, familial, 4

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.
Uniprot Description An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
Mondo Term and Equivalent IDs
MONDO:0012729:  erythrocytosis, familial, 4
MESH:C567086: 
UMLS:C2673187: