- Calcium oxalate nephrolithiasis (HP:0008672): The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. Evidence: TAS. (OMIM:143870)
- Hypercalciuria (HP:0002150). Evidence: TAS. (OMIM:143870)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11932268)
These phenotypes are associated with the disease hypercalciuria, absorptive, 2 (OMIM:143870).