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glutathione synthetase deficiency without 5-oxoprolinuria | RareConnect | RareConnect.io

/congenital nonspherocytic hemolytic anemia

/inherited glutathione synthetase deficiency

/anemia due to enzyme disorder

/glutathione synthetase deficiency without 5-oxoprolinuria

glutathione synthetase deficiency without 5-oxoprolinuria

Rare Disease

MONDO:0009284

Also Known As

CNSHA6GSSDEanemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficientglutathione synthetase deficiency of erythrocytes, hemolytic anemia due tohemolytic anaemia due to glutathione synthetase deficiencyhemolytic anemia due to glutathione synthetase deficiencyglutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:231900 ↗

Orphanet

Orphanet:289849 ↗

GARD

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