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. [ url:http://www.ncbi.nlm.nih.gov/mesh/68008659 http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism http://purl.obolibrary.org/obo/ECO_0007636 ]
Synonyms: inborn metabolism disorder Inborn Errors of Metabolism Metabolic hereditary disorder
Term information
- NCI:C34816
- MESH:D008661
- SNOMEDCT_US_2023_03_01:86095007
- UMLS_CUI:C0025521
DO_MGI_slim, NCIthesaurus