loading...| Preferred Name |
inherited metabolic disorder |
| Synonyms |
Inborn Errors of Metabolism Metabolic hereditary disorder 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 NCI:C34816 MESH:D008661 SNOMEDCT_US_2016_03_01:363205007 SNOMEDCT_US_2016_03_01:86095007 |
| 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 |