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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.
Mondo Term and Equivalent IDs
MONDO:0019052:  inborn errors of metabolism
MESH:D008661: 
NCIT:C34816: 
Orphanet:68367: 
SCTID:86095007: 
UMLS:C0025521: