Preferred Name | Inborn Errors of Metabolism | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |
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isDefinedBy |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. |
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label |
Inborn Errors of Metabolism |
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prefixIRI |
Thesaurus:Inborn_Errors_of_Metabolism |
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prefLabel |
Inborn Errors of Metabolism |
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Synonym |
Congenital Metabolism Disorder Inborn Errors of Metabolism |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metabolic_Disorder |
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