Disease Directory

10p13-p14 deletion syndrome

MONDO:0975905

14q32 duplication syndrome

MONDO:0014707

Also known as: dup(14)q(32), predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, trisomy 14q32 +2 more

15q14 microdeletion syndrome

MONDO:0014822

Also known as: Del(15)(q14), monosomy 15q14, chromosome 15q14 deletion syndrome

17q11.2 microduplication syndrome

MONDO:0015350

Also known as: Grisart-Destree syndrome, Grisart-Destrée syndrome, Nf1 Microduplication Syndrome +3 more

2-aminoadipic 2-oxoadipic aciduria

MONDO:0008774

Also known as: 2-aminoadipic 2-oxoadipic aciduria, AMOXAD, Ketoadipicaciduria +2 more

2-methylbutyryl-CoA dehydrogenase deficiency

MONDO:0012392

Also known as: 2-methylbutyric aciduria, 2-methylbutyryl-CoA dehydrogenase deficiency, 2-methylbutyrylglycinuria +7 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-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-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 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