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Disease Ontology Browser
pentosuria (DOID:0111258)
Alliance: disease page
Synonyms: essential pentosuria; L-xylulose reductase deficiency; L-xylulosuria; PNTSU; xylitol dehydrogenase deficiency
Alt IDs: OMIM:260800, ICD10CM:E74.89, MESH:C536652, ORDO:2843, UMLS_CUI:C0268162
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory