Term Name: congenital nonspherocytic hemolytic anemia 7
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 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease congenital nonspherocytic hemolytic anemia