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DOID:0111798 - X-linked nephrolithiasis type I
Disease Ontology 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.
Synonyms: NPHL1, X-linked nephrolithiasis with renal failure, X-linked recessive urolithiasis type 1, XRN, nephrolithiasis 1, nephrolithiasis X-linked recessive type 1,
Xenbase Genes
:
clcn5
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
renal tubular transport disease (is_a)