- Hyperoxaluria (HP:0003159): Increased excretion of oxalates in the urine. Evidence: TAS. (PMID:20797690)
- Calcium oxalate nephrolithiasis (HP:0008672): The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. Evidence: TAS. (PMID:20797690)
- Increased urine 4-hydroxy-2-oxoglutarate level (HP:6001009): The amount of 4-hydroxy-2-oxoglutarate in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:26401545)
- 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: TAS. (PMID:20797690)
These phenotypes are associated with the disease primary hyperoxaluria type 3 (OMIM:613616).