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autosomal dominant hypocalcemia 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Uniprot Description A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications.
Mondo Term and Equivalent IDs
MONDO:0014146:  autosomal dominant hypocalcemia 2
UMLS:C3809243: