Metadata | |
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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 |