Disease: Hypocalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.110 GeneticVariation phenotype BEFREE We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor. 19626344 2009
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.110 Biomarker phenotype HPO