Term Name: | congenital nonspherocytic hemolytic anemia 7 |
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Synonyms: | gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency |
Definition: | An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. |
Ontology: | Human Disease [DOID:0111681] ( DOID:0111681 ) |