Disease Directory

45,X/46,XY mixed gonadal dysgenesis

MONDO:0015779

Also known as: 45,X/46,XY MGD, 45,X/46,XY disorder of Sex development, 45,X/46,XY gonadal dysgenesis +4 more

46 XX gonadal dysgenesis

MONDO:0009299

Also known as: 46,XX complete gonadal dysgenesis, 46,XX gonadal dysgenesis, 46,XX ovarian dysgenesis +8 more

46,XX disorder of sex development

MONDO:0017576

Also known as: 46,XX DSD, 46,XX differences of Sex development, 46,XX disorders of Sex development +1 more

46,XX disorder of sex development-anorectal anomalies syndrome

MONDO:0017573

Also known as: female pseudohermaphroditism-anorectal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

MONDO:0009915

Also known as: female pseudohermaphroditism-skeletal anomalies syndrome, pseudohermaphroditism, female, with skeletal anomalies

46,XX ovotesticular disorder of sex development

MONDO:0016281

Also known as: 46,XX ovotesticular DSD, ovotesticular DSD, ovotesticular differences of sex development +2 more

46,XX sex reversal 1

MONDO:0100250

Also known as: ovotesticular DSD, ovotesticular disorder of sex development, 46,XX SEX reversal 1 +6 more

46,XX testicular disorder of sex development

MONDO:0100249

Also known as: 46,XX testicular DSD, 46,XX testicular differences of sex development, 46,XX testicular disorder of sex development +7 more

46,XX true hermaphroditism, SRY-positive

MONDO:0800381

46,XY complete gonadal dysgenesis

MONDO:0010765

Also known as: 46 XY gonadal dysgenesis, 46, XY CGD, 46, XY complete gonadal dysgenesis +11 more

46,XY disorder of sex development

MONDO:0020040

Also known as: 46,XY DSD, 46,XY differences of Sex development, 46,XY disorders of Sex development +4 more

46,XY ovotesticular disorder of sex development

MONDO:0017968

Also known as: 46,XY ovotesticular DSD

46,XY partial gonadal dysgenesis

MONDO:0016674

Also known as: 46,XY PGD, 46,XY partial testicular dysgenesis

46,XY sex reversal 11

MONDO:8000015

Also known as: 46, XY sex reversal 11, ETRS, SRXY11 +8 more

46,XY sex reversal 4

MONDO:0007938

Also known as: 46,XY Sex reversal type 4, 46,XY sex reversal 4, 46XY sex reversal 4, Isolated cases +4 more

47,XYY syndrome

MONDO:0019339

Also known as: 47,XYY, 47,XYY syndrome, Double Y +8 more

48,XXXY syndrome

MONDO:0019928

Also known as: 48, XXXY syndrome, XXXY syndrome

48,XXYY syndrome

MONDO:0015028

Also known as: 48, XXYY Syndrome, 48, XXYY syndrome, 48,XXYY Klinefelter syndrome +2 more

48,XYYY syndrome

MONDO:0020469

Also known as: 48,XYYY

49,XXXXY syndrome

MONDO:0019929

Also known as: 49,XXXXY, XXXXY syndrome