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Metadata
ID DOID:655
Name inherited metabolic 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.
http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, http://www.ncbi.nlm.nih.gov/mesh/68008659
Xrefs

MESH:D008661

NCI:C34816

SNOMEDCT_US_2021_03_01:86095007

UMLS_CUI:C0025521

Subsets

DO_MGI_slim

NCIthesaurus

Synonyms

Inborn Errors of Metabolism [EXACT]

inborn metabolism disorder [EXACT]

Metabolic hereditary disorder [EXACT]

Parent Relationships

is_a genetic disease

is_a disease of metabolism

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