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 |
SNOMEDCT_US_2023_03_01:86095007 |
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 |