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inborn errors of metabolism

http://purl.obolibrary.org/obo/DOID_655

"A simple genetic disease that comprises a large class of genetic diseases involving disorders of metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism]

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Term info

Label

inborn errors of metabolism

Synonyms

"Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816]
"Inborn error of metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:86095007]
"Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007]
"inborn metabolism disorder" EXACT [CSP2005:1849-0057]

see also

URI: http://www.ebi.ac.uk/cellline#inborn_errors_of_metabolism, SNOMEDCT_2010_1_31:86095007, NCI2009_04D:C34816, SNOMEDCT_2010_1_31:363205007, UMLS_CUI:C0025521, MSH2010_2010_02_22:D008661

Term relations

Subclass of:

disease of metabolism
simple genetic disease