Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: colt (Dme)
Disease
Source: DOID:3146
Definition: An inherited metabolic disorder that involves the creation and degradation of lipids.
Genes: colt (Dme)
Source: DOID:0111585
Definition: A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
Genes: colt (Dme)