| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. (Orphanet Rare Disease Ontology, Orphanet_2843) |
| External Link | http://www.omim.org/entry/260800 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the [pentosuria] phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| DCXR | dicarbonyl/L-xylulose reductase |
