- Nephropathy (HP:0000112, a Human Phenotype Ontology term): A nonspecific term referring to disease or damage of the kidneys. Evidence: IEA. (OMIM:602114)
- Abnormal tubulointerstitial morphology (HP:0001969, a Human Phenotype Ontology term): An abnormality that involves the tubules and interstitial tissue of the kidney. Evidence: IEA. (OMIM:602114)
- 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: IEA. (OMIM:602114)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: IEA. (OMIM:602114)
- Chronic kidney disease (HP:0012622, a Human Phenotype Ontology term): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. (OMIM:602114)
- Cholestatic liver disease (HP:0002611, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:602114)
These phenotypes are associated with the disease nephropathy, progressive tubulointerstitial, with cholestatic liver disease (OMIM:602114, an entry in Online Mendelian Inheritance in Man).