Disease: Adrenal Gland Hyperplasia II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
Adrenal Gland Hyperplasia II 		0.020 GeneticVariation disease BEFREE Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 26079780 2015
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
Adrenal Gland Hyperplasia II 		0.020 GeneticVariation disease BEFREE A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency. 22343390 2012