Disease Directory

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 1 deficiency

MONDO:0008861

Also known as: 3-Methylcrotonyl-Coa carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1 +26 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

3-methylglutaconic aciduria type 5

MONDO:0012435

Also known as: 3-methylglutaconic aciduria caused by mutation in DNAJC19, 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type V +14 more

3-methylglutaconic aciduria type 8

MONDO:0044723

Also known as: 3-methylglutaconic aciduria type VIII, MGCA8, 3-methylglutaconic aciduria, type VIII, 3-methylglutaconic aciduria, type VIII; MGCA8 +4 more

3-methylglutaconic aciduria type 9

MONDO:0044724

Also known as: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, 3-methylglutaconic acuduria type IX, MGCA9, MGA9 +4 more

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

MONDO:0013875

Also known as: 3-methylglutaconic aciduria caused by mutation in SERAC1, 3-methylglutaconic aciduria type 6, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +11 more

3-methylglutaconic aciduria, type VIIA

MONDO:0859237

3-methylglutaconic aciduria, type VIIB

MONDO:0014561

Also known as: 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +8 more

3-phosphoglycerate dehydrogenase deficiency

MONDO:0018491

3M syndrome 1

MONDO:0010117

Also known as: 3-M syndrome 1, 3-M syndrome caused by mutation in CUL7, 3-M syndrome caused by mutation in Cul7 +10 more

3M syndrome 2

MONDO:0013039

Also known as: 3-M syndrome 2, 3-M syndrome caused by mutation in OBSL1, 3M syndrome 2 +4 more

3M syndrome 3

MONDO:0013627

Also known as: 3-M syndrome 3, 3-M syndrome caused by mutation in CCDC8, 3M syndrome 3 +4 more

3MC syndrome

MONDO:0017398

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

3MC syndrome 1

MONDO:0009770

Also known as: 3MC syndrome 1, 3MC syndrome caused by mutation in MASP1, 3MC syndrome type 1 +7 more