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inborn errors of metabolism
Disease Summary
Associated Targets (2213)
Tbio
1459
Tchem
410
Tclin
211
Tdark
133
Mondo Description An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Disease Ontology Description A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.