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| DOID:0080078 | Name | hypophosphatemic nephrolithiasis/osteoporosis 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. | ||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0080655 | |||||
| DB_info | Database | OMIM | disease | 612287 | |
| Attribute_of | Gene_by_orthology | WBGene00006438 |
