FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial erythrocytosis 2 ID (Ontology) DOID:0060474 (Human Disease)
Definition A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Also Known As "autosomal recessive benign erythrocytosis" ; "Chuvash erythromatosis" ; "Chuvash polycythemia" (for all, see Synonyms field below)
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 Genes
 familial erythrocytosis 2       1
 for disease ribbon | familial erythrocytosis 2       1
 model of | familial erythrocytosis 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
polycythemia                     |
 |__primary polycythemia_________|
                                 familial erythrocytosis 2  1 rec.
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Is a autosomal recessive disease
primary polycythemia
Part of
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Synonyms
  • "autosomal recessive benign erythrocytosis" EXACT
    "Chuvash erythromatosis" EXACT
    "Chuvash polycythemia" EXACT
    "Chuvash type polycythemia" EXACT
    "ECYT2" EXACT OMO:0003012
Secondary IDs
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ICD10CM:D75.1
MIM:263400
ORDO:238557