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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS_CUI:C0025521
  • NCI:C34816
  • MESH:D008661
  • SNOMEDCT_US_2022_03_01:86095007
Subsets

DO_MGI_slim, NCIthesaurus

definition
  • 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.
has exact synonym
  • inborn metabolism disorder
  • Metabolic hereditary disorder
  • Inborn Errors of Metabolism
has obo namespace
  • disease_ontology
id
  • DOID:655