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Accession:DOID:0111258 term browser browse the term
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. (DO)
Synonyms:exact_synonym: L-Xylulose reductase deficiency;   L-Xylulosuria;   PNTSU;   essential pentosuria;   xylitol dehydrogenase deficiency
 primary_id: MESH:C536652
 alt_id: DOID:9008597;   OMIM:260800;   RDO:0002293
 xref: GARD:418;   ORDO:2843
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pentosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcxr dicarbonyl and L-xylulose reductase JBrowse link 10 109,906,119 109,909,696 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            pentosuria 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                pentosuria 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.