X-linked nephrolithiasis type I

Term ID

DOID:0111798

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. (2)

References

• OMIM:310468

Ontology

Human Disease   ( DOID:0111798 )