|Dataset||GAD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. (Orphanet Rare Disease Ontology, Orphanet_42)|
|Downloads & Tools|
2 genes associated with the disease medium-chain acyl-coa dehydrogenase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.