Human genes for X-linked nephrolithiasis type I
X-linked nephrolithiasis type I [DOID:0111798]
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.
Synonyms: X-linked nephrolithiasis type I, DOID:0111798, Xlinked nephrolithiasis type I, X-linked nephrolithiasis type Is, nephrolithiasis 1 ...