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| Term | hydroxykynureninuria | ID (Ontology) | DOID:0112257 (Human Disease) |
| 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. | ||
| Also Known As | "kynureninase deficiency" ; "xanthurenic aciduria" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____ inherited metabolic disorder | |__amino acid metabolic disorder__| hydroxykynureninuria |
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| Is a |
autosomal recessive disease amino acid metabolic disorder |
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GARD:10039 MESH:C536081 MIM:236800 ORDO:79155 |
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