FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial erythrocytosis 7 ID (Ontology) DOID:0111631 (Human Disease)
Definition A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.
Also Known As "alpha-globin type erythrocytosis" ; "alpha-globin type polycythemia" ; "ECYT7"
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 Genes
 familial erythrocytosis 7       1
 for disease ribbon | familial erythrocytosis 7       1
 model of | familial erythrocytosis 7       1
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  polycythemia
   |__primary polycythemia
       |__familial erythrocytosis 7  1 rec.
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Is a primary polycythemia
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Synonyms
  • "alpha-globin type erythrocytosis" EXACT
    "alpha-globin type polycythemia" EXACT
    "ECYT7" EXACT OMO:0003012
Secondary IDs
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MIM:617981