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loading...| Preferred Name | inherited metabolic disorder | |
| Synonyms |
Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_655 |
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| database_cross_reference |
UMLS_CUI:C0025521 MESH:D008661 SNOMEDCT_US_2023_03_01:86095007 NCI:C34816 |
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| 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. |
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| has exact synonym |
Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:655 |
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| in_subset | ||
| label |
inherited metabolic disorder |
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| notation |
DOID:655 |
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| prefLabel |
inherited metabolic disorder |
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| subClassOf |
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