Search Ontology:
Human Disease

congenital nonspherocytic hemolytic anemia 7

Term ID
DOID:0111681
Synonyms
  • gamma-glutamylcysteine synthetase deficiency
  • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Definition
An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is 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)
References
Ontology
Human Disease   ( DOID:0111681 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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