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familial hypocalciuric hypercalcemia

Disease Summary
Associated Targets (3)
Tclin

1

Tchem

1

Tbio

1


GARD Rare
Mondo Description Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Mondo Term and Equivalent IDs
MONDO:0018458:  familial hypocalciuric hypercalcemia
GARD:0010828: 
NCIT:C123262: 
OMIMPS:145980: 
Orphanet:405: 
SCTID:237885008: 
UMLS:C0342637: 
UMLS:C1809471: