Term Name: | hypophosphatemic nephrolithiasis/osteoporosis 1 |
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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 ) |