FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital nonspherocytic hemolytic anemia 2 ID (Ontology) DOID:0111077 (Human Disease)
Definition A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
Also Known As "hemolytic anemia due to red cell pyruvate kinase deficiency" ; "PK deficiency" ; "pyruvate kinase deficiency of erythrocyte" (for all, see Synonyms field below)
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 Genes
 congenital nonspherocytic hemolytic anemia 2       5
 for disease ribbon | congenital nonspherocytic hemolytic anemia 2       5
 model of | congenital nonspherocytic hemolytic anemia 2       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_________________
congenital hemolytic anemia                     |
 |__congenital nonspherocytic hemolytic anemia__|
                                                congenital nonspherocytic hemolytic anemia 2  5 rec.
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Is a autosomal recessive disease
congenital nonspherocytic hemolytic anemia
Part of
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Synonyms
  • "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT
    "PK deficiency" EXACT
    "pyruvate kinase deficiency of erythrocyte" EXACT
    "pyruvate kinase deficiency of red cells" EXACT
    "Red cell pyruvate kinase deficiency" EXACT
Secondary IDs
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GARD:7514
MESH:C564858
MIM:266200
ORDO:766