Phenotypes associated with the disease essential fructosuria (OMIM:229800):
- Impairment of fructose metabolism (HP:0011033): An impairment of a fructose metabolic process. Evidence: TAS. (OMIM:229800)
- 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:7833921)
- Elevated urine fructose level (HP:6000804): Amount of fructose in the urine above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:7833921)