Metadata | |
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ID | DOID:0080077 |
Name | hypophosphatemic nephrolithiasis/osteoporosis 1 |
Definition | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. https://www.ncbi.nlm.nih.gov/pubmed/12324554 |
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