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X-linked nephrolithiasis type I
Summary
- Synonym
-
- NPHL1
- X-linked nephrolithiasis with renal failure
- X-linked recessive urolithiasis type 1
- XRN
- nephrolithiasis 1
- nephrolithiasis X-linked recessive type 1
- 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.
- Super Class
- X-linked recessive disease renal tubular transport disease
External Links
- Disease Ontology
- DOID:0111798
- Mondo Disease Ontology
- OMIM
