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Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory