Disease Term Disease ID Gene Symbol References
46, XX Gonadal Sex Reversal C2936420 MRPS22 29566152
46,XX SEX REVERSAL 4 C4479552 NR5A1 27610946, 27490115, 27855412, 27378692
46,XX testicular disorder of sex development 393 SOX9
SRY
SOX3
NR0B1
NR5A1
46, XX Testicular Disorders of Sex Development C2936419 NR0B1 28483799
NR5A1 27490115
SOX3 21183788, 22678921
SOX9 24140641