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 6 ID (Ontology) DOID:0112252 (Human Disease)
Definition A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
Also Known As "glutathione synthetase deficiency of erythrocytes" ; "glutathione synthetase deficiency without 5-oxoprolinuria"
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 congenital nonspherocytic hemolytic anemia 6       2
 for disease ribbon | congenital nonspherocytic hemolytic anemia 6       2
 model of | congenital nonspherocytic hemolytic anemia 6       2
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autosomal genetic disease
 |__autosomal recessive disease_________________
congenital hemolytic anemia                     |
 |__congenital nonspherocytic hemolytic anemia__|
amino acid metabolic disorder                   |
 |__glutathione synthetase deficiency___________|
                                                congenital nonspherocytic hemolytic anemia 6  2 rec.
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Is a autosomal recessive disease
glutathione synthetase deficiency
congenital nonspherocytic hemolytic anemia
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Synonyms
  • "glutathione synthetase deficiency of erythrocytes" EXACT
    "glutathione synthetase deficiency without 5-oxoprolinuria" EXACT
Secondary IDs
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MIM:231900
ORDO:289849