Disease Directory

3MC syndrome 2

MONDO:0009927

Also known as: 3MC syndrome 2, 3MC syndrome caused by mutation in COLEC11, 3MC syndrome type 2 +8 more

3MC syndrome 3

MONDO:0009554

Also known as: 3MC syndrome 3, 3MC syndrome caused by mutation in COLEC10, 3MC syndrome type 3 +6 more

3p- syndrome

MONDO:0013424

Also known as: 3p- syndrome, Chromosome 3, Monosomy 3p, chromosome 3pter-p25 deletion syndrome +16 more

3p25.3 microdeletion syndrome

MONDO:0018564

Also known as: Del(3)p(25.3), intellectual disability-epilepsy-stereotypic hand movement syndrome, monosomy 3p25.3

3q26 microduplication syndrome

MONDO:0019878

Also known as: Cornelia de Lange-like syndrome, dup(3)(q26), dup(3q) syndrome +1 more

3q26q27 microdeletion syndrome

MONDO:0018156

Also known as: 3q26-q27microdeletion syndrome, Del(3)(q26q27), monosomy 3q26-q27 +1 more

3q27.3 microdeletion syndrome

MONDO:0018341

Also known as: Del(3)(q27.3)

4-hydroxyphenylacetic aciduria

MONDO:0022330

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 ovarian dysgenesis-short stature syndrome

MONDO:0014520

Also known as: ovarian dysgenesis type 4, ODG4, ovarian dysgenesis 4

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 sex reversal 2

MONDO:0010218

Also known as: 46,XX Sex reversal type 2, 46,XX sex reversal 2, 46XX sex reversal 2 +3 more

46,XX sex reversal 3

MONDO:0010442

Also known as: 46,XX Sex reversal type 3, 46,XX sex reversal 3, 46XX sex reversal 3, X-linked dominant +5 more

46,XX sex reversal 4

MONDO:0060489

Also known as: 46, XX sex reversal 4, 46,XX SEX reversal 4, 46,XX Sex reversal, Sry-Negative +1 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