loading...| Preferred Name |
congenital metabolic disorder |
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| Synonyms |
IEM inborn error of metabolism congenital biochemical disorder IMD inherited meatbolic disorder |
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| Definitions |
A group of constitutional genetic disorders that are inborn genetic mutations (for particular enzyme) and that result in enzyme absence or disfunction that produces disturbances in metabolic process involving lipids, lysosome storage and amino acids (depending on the enzyme being encoded by mutated gene). Definition source: http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |
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| ID |
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_2709221 |
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| comment |
Definition source: http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |
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| altLabel |
IEM inborn error of metabolism congenital biochemical disorder IMD inherited meatbolic disorder |
|
| definition |
A group of constitutional genetic disorders that are inborn genetic mutations (for particular enzyme) and that result in enzyme absence or disfunction that produces disturbances in metabolic process involving lipids, lysosome storage and amino acids (depending on the enzyme being encoded by mutated gene). |
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| editorialNote |
Curation status: Incomplete |
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| label |
congenital metabolic disorder |
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| prefixIRI |
ONSTR:ONSTR_2709221 |
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| prefLabel |
congenital metabolic disorder |
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| subClassOf |