OBO ID: DOID:0111681 |
Term Name: | glutamate-cysteine ligase deficiency | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111681 ) |
OTHER glutamate-cysteine ligase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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