Phenotypes associated with the disease pentosuria (OMIM:260800):
- Elevated urine L-xylulose level (HP:0025742): The amount of L-xylulose in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:22042873)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22042873)