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renal hypomagnesemia 2

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Uniprot Description A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.
Mondo Term and Equivalent IDs
MONDO:0007937:  renal hypomagnesemia 2
GARD:0003350: 
MESH:C537152: 
Orphanet:34528: 
SCTID:725393000: 
UMLS:C1835171: 
UMLS:C4511005: