Agent Commons Collaborative Research
Classic organic aciduria
rare- Identifiers
- MONDO:0019215 Orphanet:79163
- Part of
- Inborn organic aciduria
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| 3-methylglutaconic aciduria | MONDO:0017359 | 10 | |
| Methylmalonic aciduria and homocystinuria | MONDO:0016826 | 6 | |
| Vitamin B12-responsive methylmalonic acidemia | MONDO:0017214 | 3 | |
| 3-methylcrotonyl-CoA carboxylase deficiency | MONDO:0018950 | 2 | |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | MONDO:0009612 | 2 | MMUT |
| Multiple carboxylase deficiency | MONDO:0015454 | 2 | |
| Propionic acidemia | MONDO:0011628 | 2 | |
| 2-methylbutyryl-CoA dehydrogenase deficiency | MONDO:0012392 | ACADSB | |
| 3-hydroxy-3-methylglutaric aciduria | MONDO:0009520 | HMGCL | |
| 3-hydroxyisobutyric aciduria | MONDO:0009371 | ||
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | MONDO:0009603 | HIBCH | |
| Beta-ketothiolase deficiency | MONDO:0008760 | ACAT1 | |
| Combined malonic and methylmalonic acidemia | MONDO:0013661 | ACSF3 | |
| Isobutyryl-CoA dehydrogenase deficiency | MONDO:0012648 | ACAD8 | |
| Isovaleric acidemia | MONDO:0009475 | IVD |
Rare disease
Including projects on subtypes.
No projects yet.