WormBase Tree Display for DO_term: DOID:0112257
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| DOID:0112257 | Name | hydroxykynureninuria | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | kynureninase deficiency | |||
| xanthurenic aciduria | |||||
| Parent | Is_a | DOID:9252 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 236800 | |
| Attribute_of | Gene_by_orthology | WBGene00015802 |
