Term Name: | hypophosphatemic nephrolithiasis/osteoporosis 2 |
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Synonyms: | |
Definition: | A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. |
Ontology: | Human Disease [DOID:0080078] ( DOID:0080078 ) |