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autosomal dominant hypocalcemia

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


GARD Rare
Mondo Description Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Disease Ontology Description A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.
Mondo Term and Equivalent IDs
MONDO:0018543:  autosomal dominant hypocalcemia
GARD:0002877: 
OMIMPS:601198: 
Orphanet:428: 
SCTID:711152006: 
UMLS:CN205077: