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5-oxoprolinase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
Uniprot Description A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain.
Mondo Term and Equivalent IDs
MONDO:0009825:  5-oxoprolinase deficiency
GARD:0005681: 
MESH:C535322: 
Orphanet:33572: 
SCTID:26132002: 
UMLS:C0268525: