glutamate-cysteine ligase deficiency Disease Ontology Browser

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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 the GCLC gene 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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