Term Name: hypophosphatemic nephrolithiasis/osteoporosis 2
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 )

Relationships
is a type of: autosomal dominant disease hypophosphatemic nephrolithiasis/osteoporosis