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Disease Ontology Browser
glutamate-cysteine ligase deficiency (DOID:0111681)
Alliance: disease page
Synonyms: gamma-glutamylcysteine synthetase deficiency; hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Alt IDs: OMIM:230450, MESH:C565557, ORDO:33574, UMLS_CUI:C1856603
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 GCLC on chromosome 6p12.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory