. "X-linked nephrolithiasis with renal failure"^^ . "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 CLCN5 on chromosome Xp11.23."^^ . _:vb50945493 . "OMIM:310468"^^ . "XRN"^^ . _:vb50945493 . _:vb50945493 . "nephrolithiasis X-linked recessive type 1"^^ . _:vb50945493 . "nephrolithiasis 1"^^ . "DOID:0111798"^^ . "disease_ontology"^^ . "X-linked nephrolithiasis type I"^^ . . "NPHL1"^^ . . _:vb50945493 . "X-linked recessive urolithiasis type 1"^^ . .