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Bartter disease type 4B

Disease Summary
Associated Targets (2)
Tchem

2


Mondo Description A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.
Uniprot Description A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0000909:  Bartter disease type 4B
UMLS:C2751312: