Search Ontology:
Human Disease

inherited metabolic disorder

Term ID
DOID:655
Synonyms
  • Inborn Errors of Metabolism
  • inborn metabolism disorder
  • Metabolic hereditary disorder
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. (2)
References
  • MESH:D008661
  • NCI:C34816
  • SNOMEDCT_US_2023_03_01:86095007
  • UMLS_CUI:C0025521
Ontology
Human Disease   ( DOID:655 )
Relationships
is a type of
has subtype
Other Pages
Genes Involved
Zebrafish Models