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Metadata
ID DOID:0060652
Name familial erythrocytosis 1
Definition A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
https://www.ncbi.nlm.nih.gov/pubmed/9292543
Xrefs

ICD10CM:D75.0

OMIM:133100

ORDO:90042

Synonyms

autosomal dominant benign erythrocytosis [EXACT]

primary familial and congenital polycythemia [EXACT]

Parent Relationships

is_a primary polycythemia

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