X-linked nephrolithiasis type I (DOID:0111798)
Alliance: disease page
Synonyms: nephrolithiasis 1; nephrolithiasis X-linked recessive type 1; NPHL1; X-linked nephrolithiasis with renal failure; X-linked recessive urolithiasis type 1; XRN
Alt IDs: OMIM:310468
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.