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inherited metabolic disorder

^ http://purl.obolibrary.org/obo/DOID_655


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_0007638 url:http://www.ncbi.nlm.nih.gov/mesh/68008659 http://purl.obolibrary.org/obo/ECO_0007636 url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism ]

Synonyms: inborn metabolism disorder, Inborn Errors of Metabolism, Metabolic hereditary disorder

Term info

database cross reference
  • NCI:C34816
  • UMLS_CUI:C0025521
  • NCI2004_11_17:C34816
  • SNOMEDCT_US_2018_03_01:86095007
  • CSP2005:1849-0057
  • MESH:D008661
Subsets

DO_MGI_slim, NCIthesaurus

has obo namespace

disease_ontology

id

DOID:655