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Disease Ontology Browser
hydroxykynureninuria (DOID:0112257)
Alliance: disease page
Synonyms: kynureninase deficiency; xanthurenic aciduria
Alt IDs: OMIM:236800, MESH:C536081, ORDO:79155
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory