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glutathione synthetase deficiency with 5-oxoprolinuria

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.
Mondo Term and Equivalent IDs
MONDO:0009947:  glutathione synthetase deficiency with 5-oxoprolinuria
Orphanet:289846: 
SCTID:39112005: