Disease: Precocious pubarche ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.140 Biomarker disease BEFREE Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. 15585552 2005
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.140 GeneticVariation disease BEFREE Heterozygosity for HSD3B2 variants was identified in 3 of 40 (7.5%) PP, 5 of 29 (17%) HA, and 0/15 controls. 11287026 2001
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.140 GeneticVariation disease BEFREE We screened the HSD3B2 gene for mutations in girls with premature pubarche and a hormonal diagnosis of 3beta-hydroxysteroid dehydrogenase deficiency. 10651755 2000
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.140 GeneticVariation disease BEFREE This is the first report of a proven mutation in 3 beta-HSD type II associated with premature pubarche. 8185809 1994
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.140 Biomarker disease HPO