- Elevated urinary phosphohydroxylysine level (HP:6000806): The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:23242558)
- Phosphohydroxylysinuria (HP:0031870): An elevated concentration of phosphohydroxylysine in the urine. Evidence: PCS. Frequency: 1/1. (PMID:23242558)
- 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:23242558)
These phenotypes are associated with the disease phosphohydroxylysinuria (OMIM:615011).