| Metadata | |
|---|---|
| ID | DOID:0080078 | 
| Name | hypophosphatemic nephrolithiasis/osteoporosis 2 | 
| Definition | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.  https://www.ncbi.nlm.nih.gov/pubmed/18784102, https://www.nejm.org/doi/full/10.1056/NEJMoa020028, https://pubmed.ncbi.nlm.nih.gov/31364377/  | 
			    
                        
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal dominant inheritance  |