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Repository for lectin-assisted multimodality data
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MIRAGE
short chain acyl-CoA dehydrogenase deficiency
Summary
- Definition
- A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080154
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07417 | Short-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001942 | Metabolic acidosis |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0000544 | External ophthalmoplegia |
| HP:0003623 | Neonatal onset |
| HP:0001371 | Flexion contracture |
| HP:0011463 | Childhood onset |
| HP:0001251 | Ataxia |
| HP:0002650 | Scoliosis |
| HP:0000007 | Autosomal recessive inheritance |
