loading...| Preferred Name |
inborn errors of metabolism |
|
| Synonyms |
inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder inborn disorders of metabolism congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder inherited disorder of metabolism inborn metabolic disorder inherited disorders of metabolism rare metabolic disease rare inherited metabolic disorder rare inborn errors of metabolism |
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| Definitions |
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019052 |
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| comment |
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 |
|
| has_exact_synonym |
inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder inborn disorders of metabolism congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder inherited disorder of metabolism inborn metabolic disorder inherited disorders of metabolism |
|
| has_narrow_synonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
|
| has_related_synonym |
rare metabolic disease |
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| IAO_0000233 | ||
| label |
inborn errors of metabolism |
|
| prefixIRI |
MONDO:0019052 |
|
| prefLabel |
inborn errors of metabolism |
|
| textual definition |
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
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| subClassOf |