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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 url:http://www.ncbi.nlm.nih.gov/mesh/68008659 url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism ]
Term information
- UMLS_CUI:C0025521
- NCI:C34816
- MESH:D008661
- SNOMEDCT_US_2022_03_01:86095007
DO_MGI_slim, NCIthesaurus
- 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.
- inborn metabolism disorder
- Metabolic hereditary disorder
- Inborn Errors of Metabolism
- disease_ontology
- DOID:655