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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:glutamate-cysteine ligase deficiency
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Accession:DOID:0111681 term browser browse the term
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. (DO)
Synonyms:exact_synonym: gamma-glutamylcysteine synthetase deficiency;   hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
 primary_id: MESH:C565557
 alt_id: OMIM:230450
 xref: ORDO:33574
For additional species annotation, visit the Alliance of Genome Resources.

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glutamate-cysteine ligase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency OMIM
PMID:10515893 PMID:25741868 PMID:28492532 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4644
          amino acid metabolic disorder 801
            glutamate-cysteine ligase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                glutamate-cysteine ligase deficiency 1
paths to the root