- Stage 5 chronic kidney disease (HP:0003774, a Human Phenotype Ontology term): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. (PMID:17618285)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:17618285)
- Nephronophthisis (HP:0000090, a Human Phenotype Ontology term): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. (PMID:17618285)
- Renal tubular atrophy (HP:0000092, a Human Phenotype Ontology term): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: PCS. (PMID:17618285)
These phenotypes are associated with the disease nephronophthisis 7 (OMIM:611498, an entry in Online Mendelian Inheritance in Man).