Disease: Hyperammonemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.010 GeneticVariation phenotype BEFREE This is the first case of dRTA with hyperammonemia in which the ATP6V0A4 mutations were identified. dRTA should be considered in the differential diagnosis of children presenting with hyperammonemia. 20221774 2010