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Summary Literature (0)
DOID:0111681 - congenital nonspherocytic hemolytic anemia 7

Disease Ontology 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.

Synonyms: gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency

Xenbase Genes : gclc


MIM:
MIM:230450 - ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 7; CNSHA7

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), congenital nonspherocytic hemolytic anemia (is_a)