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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pentosuria
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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
For additional species annotation, visit the Alliance of Genome Resources.


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pentosuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcxr dicarbonyl and L-xylulose reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential pentosuria
OMIM
CTD
ClinVar
PMID:22042873, PMID:25526675, PMID:28595002 NCBI chr10:109,906,119...109,909,696
Ensembl chr10:109,906,815...109,909,715
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2231
          amino acid metabolic disorder 435
            pentosuria 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                pentosuria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.