OBO ID: DOID:0112257
Term Name: hydroxykynureninuria Search Ontology:
Synonyms:
  • kynureninase deficiency
  • xanthurenic aciduria
Definition: 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. https://pubmed.ncbi.nlm.nih.gov/17334708/
References:
Ontology: Human Disease   ( DOID:0112257 )
Relationships
is a type of:
OTHER hydroxykynureninuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KYNU ?Hydroxykynureninuria 236800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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