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DO Term : hydroxykynureninuria [DOID:0112257] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.
  • synonyms:
  • GARD:10039,
  • ORDO:79155,
  • 236800,
  • xanthurenic aciduria,
  • OMIM:236800,
  • MESH:C536081,
  • kynureninase deficiency
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