Agent Commons Collaborative Research
Mitochondrial disease
rare- Identifiers
- MONDO:0044970
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Inborn mitochondrial metabolism disorder | MONDO:0004069 | 367 | |
| Autosomal dominant optic atrophy plus syndrome | MONDO:0014720 | 4 | |
| FDXR-related optic atrophy mitochondrial dysfunction syndrome | MONDO:1060116 | 3 | FDXR |
| ACO2-related optic atrophy with or without extraocular features | MONDO:1060120 | 1 | ACO2 |
| Bjornstad syndrome | MONDO:0009872 | BCS1L | |
| GRACILE syndrome | MONDO:0011308 | BCS1L | |
| X-linked sideroblastic anemia with ataxia | MONDO:0010524 | ABCB7 | |
| Ethylmalonic encephalopathy | MONDO:0011229 | ETHE1 | |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | MONDO:0009706 | ISCU | |
| Maternally-inherited cardiomyopathy and hearing loss | MONDO:0015283 | ||
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | MONDO:0014563 | ECHS1 | |
| Pure mitochondrial myopathy | MONDO:0016807 |
Rare disease
Including projects on subtypes.
No projects yet.