Disease: Amenorrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.300 Biomarker phenotype CTD_human We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. 8265607 1993