loading...| Preferred Name |
Inborn Errors of Metabolism |
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| Synonyms |
Congenital Metabolic Disorder Inborn error of metabolism |
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| Definitions |
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0025521 |
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| altLabel |
Congenital Metabolic Disorder IEM Inborn error of metabolism Metabolic hereditary disorder INBORN ERR METAB Maladies métaboliques congénitales IBEM Inborn error of metabol Metabolism, Inborn Errors IBEM Inborn error of metabolism inborn metabolism disorder Erreur innée du métabolisme Inborn error of metabolism |
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| definition |
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (source : MSH) |
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| has_severity | ||
| hiddenLabel |
InbornErrorsOfMetabolism ErreursInnéesDuMétabolisme |
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| prefixIRI |
OntoAD:C0025521 |
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| prefLabel |
Inborn Errors of Metabolism Erreurs innées du métabolisme |
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| subClassOf |
http://doe-generated-ontology.com/OntoAD#C0025517 |