OBO ID: DOID:0111258
Term Name: pentosuria Search Ontology:
Synonyms:
  • essential pentosuria
  • L-xylulose reductase deficiency
  • L-xylulosuria
  • PNTSU
  • xylitol dehydrogenase deficiency
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. https://www.ncbi.nlm.nih.gov/pubmed/22042873
References:
  • GARD:418
  • ICD10CM:E74.89
  • MEDDRA:10064170
  • MESH:C536652
  • OMIM:260800
  • ORDO:2843
  • SNOMEDCT_US_2023_03_01:190764000
  • UMLS_CUI:C0268162
Ontology: Human Disease   ( DOID:0111258 )
Relationships
is a type of:
OTHER pentosuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DCXR [Pentosuria] 260800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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