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 |
|
| alternative label |
Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder |
|
| database_cross_reference |
UMLS_CUI:C0025521 MESH:D008661 SNOMEDCT_US_2023_03_01:86095007 NCI:C34816 |
|
| 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 |
|
| note |
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. |
|
| preferred label |
inherited metabolic disorder |
|
| prefLabel |
inherited metabolic disorder |
|
| subClassOf |