FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial erythrocytosis 1 ID (Ontology) DOID:0060652 (Human Disease)
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.
Also Known As "autosomal dominant benign erythrocytosis" ; "ECYT1" ; "primary familial and congenital polycythemia"
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 Genes
 familial erythrocytosis 1       2
 for disease ribbon | familial erythrocytosis 1       2
 model of | familial erythrocytosis 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
polycythemia                    |
 |__primary polycythemia________|
                                familial erythrocytosis 1  2 rec.
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Is a autosomal dominant disease
primary polycythemia
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Synonyms
  • "autosomal dominant benign erythrocytosis" EXACT
    "ECYT1" EXACT OMO:0003012
    "primary familial and congenital polycythemia" EXACT
Secondary IDs
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ICD10CM:D75.0
MIM:133100
ORDO:90042