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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
 xref: GARD:418;   ICD10CM:E74.89;   ORDO:2843


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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 chr10:106,006,404...106,008,293 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            pentosuria 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                pentosuria 1
paths to the root