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://en.wikipedia.org/wiki/Inborn_errors_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007636 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D008661
  • UMLS_CUI:C0025521
  • NCI:C34816
  • SNOMEDCT_US_2021_09_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