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loading...| Preferred Name |
inherited metabolic disorder |
| Synonyms |
Inborn Errors of Metabolism |
| 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 |
NCI:C34816 UMLS_CUI:C0025521 SNOMEDCT_US_2022_09_01:86095007 MESH:D008661 |
| 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. |
| has exact synonym |
Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder |
| has_obo_namespace |
disease_ontology |
| id |
DOID:655 |
| in_subset | |
| label |
inherited metabolic disorder |
| notation |
DOID:655 |
| prefLabel |
inherited metabolic disorder |
| subClassOf |
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