has modifier Mendelian disease metabolic disease inborn errors of metabolism DOID:655 MESH:D008661 MONDO:0019052 MedDRA:10058097 MedDRA:10062018 NCIT:C34816 Orphanet:68367 Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. SCTID:86095007 UMLS:C0025521 congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inborn error of metabolism inborn errors of metabolism inborn metabolism disorder inherited metabolic disorder metabolic hereditary disorder rare inborn errors of metabolism rare inherited metabolic disorder rare metabolic disease inherited