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Bartter syndrome with hypocalcemia

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)
Mondo Term and Equivalent IDs
MONDO:0016983:  Bartter syndrome with hypocalcemia
Orphanet:263417: 
UMLS:C3715128: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found