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pentosuria

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Uniprot Description An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.
Mondo Term and Equivalent IDs
MONDO:0009846:  pentosuria
DOID:0111258: 
GARD:0000418: 
MESH:C536652: 
OMIM:260800: PENTOSURIA
Orphanet:2843: 
SCTID:190764000: 
UMLS:C0268162: