X-linked nephrolithiasis with renal failureXRNnephrolithiasis X-linked recessive type 1nephrolithiasis 1NPHL1X-linked recessive urolithiasis type 1
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.