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DOID:0111681 - glutamate-cysteine ligase deficiency
Disease Ontology Definition:An amino acid metabolic disorder 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.
Synonyms: gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency,
Xenbase Genes : gclc
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee