OBO ID: DOID:655
Term Name: inherited metabolic disorder Search Ontology:
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_2021_03_01:86095007
  • UMLS_CUI:C0025521
Ontology: Human Disease   (DOID:655)
Relationships
is a type of:
has subtype:
OTHER inherited metabolic disorder PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)