| Term Name: | hypophosphatemic nephrolithiasis/osteoporosis 1 |
|---|---|
| Synonyms: | |
| Definition: | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. |
| Ontology: | Human Disease [DOID:0080077] ( DOID:0080077 ) |