Disease Directory

2q23.1 microduplication syndrome

MONDO:0017786

Also known as: dup(2)(q23.1), trisomy 2q23.1

2q24 microdeletion syndrome

MONDO:0015566

Also known as: Del(2)(q24), monosomy 2q24, 2q24 deletion +2 more

2q31.1 microdeletion syndrome

MONDO:0016652

Also known as: Del(2)(q31.1), monosomy 2q31.1

2q33.1 microdeletion syndrome

MONDO:0016653

Also known as: Del(2)(q33.1), monosomy 2q33.1

2q37 microdeletion syndrome

MONDO:0010886

Also known as: 2q37 microdeletion syndrome, 2q37 monosomy, Albright hereditary osteodystrophy type 3 +12 more

3-hydroxyisobutyric aciduria

MONDO:0009371

Also known as: 3-hydroxyisobutyric aciduria, disorder of valine metabolism

3-methylcrotonyl-CoA carboxylase deficiency

MONDO:0018950

Also known as: 3-MCC deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria +6 more

3-methylglutaconic aciduria

MONDO:0017359

3-methylglutaconic aciduria type 4

MONDO:0009611

Also known as: 3-methylglutaconic aciduria type IV, MGA type IV, MGA4 +7 more

3-phosphoglycerate dehydrogenase deficiency

MONDO:0018491

3MC syndrome

MONDO:0017398

Also known as: Malpuech-Michels-Mingarelli-Carnevale syndrome, craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome

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