Disease Directory

21q22.11q22.12 microdeletion syndrome

MONDO:0016845

Also known as: 21q22.11-q22.12 microdeletion syndrome, Del(21)(q22.11q22.12), monosomy 21q22.11-q22.12 +1 more

22q11.2 deletion syndrome

MONDO:0018923

Also known as: 22q11DS, Cayler cardiofacial syndrome, Sedlackova syndrome +10 more

2p21 microdeletion syndrome

MONDO:0015583

Also known as: 2p21 deletion syndrome, 2p21 microdeletion syndrome, Del(2)(p21) +1 more

2q23.1 microdeletion syndrome

MONDO:0016459

Also known as: Del(2)(q23.1), monosomy 2q23.1, pseudo-Angelman syndrome +1 more

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-M syndrome

MONDO:0007477

Also known as: 3-M syndrome, Dolichospondylic dysplasia, Le Merrer syndrome +13 more

3-hydroxy-3-methylglutaric aciduria

MONDO:0009520

Also known as: 3-OH 3-Methyl glutaric aciduria, 3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency +10 more

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

MONDO:0011614

Also known as: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMG-CoA synthase deficiency, HMG-CoA synthase-2 deficiency +5 more

3-hydroxyacyl-CoA dehydrogenase deficiency

MONDO:0017715

3-hydroxyisobutyric aciduria

MONDO:0009371

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

3-hydroxyisobutyryl-CoA hydrolase deficiency

MONDO:0009603

Also known as: 3-hydroxyisobutryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH deficiency +7 more

3-methylcrotonyl-CoA carboxylase 2 deficiency

MONDO:0008862

Also known as: 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2, MCCC2 3-methylcrotonyl-CoA carboxylase deficiency +9 more

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 1

MONDO:0009610

Also known as: 3-methylglutaconic aciduria caused by mutation in AUH, 3-methylglutaconic aciduria caused by mutation in auh, 3-methylglutaconic aciduria type 1 +19 more

3-methylglutaconic aciduria type 3

MONDO:0009787

Also known as: OPA3 defect, 3-methylglutaconic aciduria caused by mutation in OPA3, 3-methylglutaconic aciduria type III +21 more

3-methylglutaconic aciduria type 4

MONDO:0009611

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