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hypophosphatemic nephrolithiasis/osteoporosis 1

Summary
Definition
A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
Super Class
autosomal dominant disease hypophosphatemic nephrolithiasis/osteoporosis
Disease Ontology
DOID:0080077
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6569 SLC34A1 solute carrier family 34 member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q06495 Sodium-dependent phosphate transport protein 2A
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: March 31, 2025