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DOID:0112252 - congenital nonspherocytic hemolytic anemia 6
Disease Ontology Definition:A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
Synonyms: glutathione synthetase deficiency without 5-oxoprolinuria, glutathione synthetase deficiency of erythrocytes
Echinobase Genes
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| MIM:231900 - glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to; gssde |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
congenital nonspherocytic hemolytic anemia (is_a),
glutathione synthetase deficiency (is_a)