Preferred Name |
inherited metabolic disorder |
|
Synonyms |
Inborn Errors of Metabolism inborn metabolism disorder |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_655 |
|
database_cross_reference |
UMLS_CUI:C0025521 MESH:D008661 SNOMEDCT_US_2020_03_01:86095007 NCI:C34816 |
|
has exact synonym |
Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:655 |
|
imported from | ||
in_subset | ||
label |
inherited metabolic disorder |
|
notation |
DOID:655 |
|
prefLabel |
inherited metabolic disorder |
|
textual 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. |
|
subClassOf |
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