WormBase Tree Display for DO_term: DOID:0111258
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| DOID:0111258 | Name | pentosuria | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. | ||||
| Synonym | Exact | L-xylulose reductase deficiency | |||
| L-xylulosuria | |||||
| PNTSU | |||||
| essential pentosuria | |||||
| xylitol dehydrogenase deficiency | |||||
| Parent | Is_a | DOID:9252 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 260800 | |
| Attribute_of | Gene_by_orthology | WBGene00000984 |
