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infantile Bartter syndrome with sensorineural deafness

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Mondo Description Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.
Mondo Term and Equivalent IDs
MONDO:0019524:  infantile Bartter syndrome with sensorineural deafness
GARD:0010508: 
Orphanet:89938: 
SCTID:700112007: 
UMLS:C3838860: 
UMLS:CN206343: