| Term Name: | hypophosphatemic nephrolithiasis/osteoporosis 2 |
|---|---|
| Synonyms: | |
| Definition: | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. |
| Ontology: | Human Disease [DOID:0080078] ( DOID:0080078 ) |