X-linked nephrolithiasis type I

Summary

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: nephrolithiasis 1, nephrolithiasis X-linked recessive type 1, NPHL1, X-linked nephrolithiasis with renal failure, X-linked recessive urolithiasis type 1, XRN

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: clcn5

MIM:

MIM:310468 - NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN

MIM:310468 - NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN

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), X-linked recessive disease (is_a)