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Echinobase
Summary Literature (0)
DOID:0111258 - pentosuria

Disease Ontology Definition:An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.

Synonyms: L-xylulose reductase deficiency, L-xylulosuria, PNTSU, essential pentosuria, xylitol dehydrogenase deficiency,

Echinobase Genes :


OMIM:
MIM:260800 - pentosuria; pntsu

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)