Term Name:	X-linked nephrolithiasis type I
Synonyms:	nephrolithiasis 1, nephrolithiasis X-linked recessive type 1, NPHL1, X-linked nephrolithiasis with renal failure, X-linked recessive urolithiasis type 1, XRN
Definition:	A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.
Ontology:	Human Disease [DOID:0111798]   ( DOID:0111798 )