Preferred Name | Metabolism, Inborn Errors | |
Synonyms |
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Definitions |
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
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ID |
http://www.phoc.org.cn/pmo/class/PMO_00036639 |
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Database_Cross_Reference |
RCD:X40RY MTH:NOCODE SNMI:D6-00100 MDR:10062018 SNOMEDCT_US:363205007 MDR:10021605 SNM:D-1001 DO:DOID:655 NCI_NICHD:C34816 NDFRT:N0000002005 MDR:10021601 LCH_NW:sh85084017 LCH:U002925 CHV:0000008000 NCI:C34816 MSH:D008661 CSP:1849-0057 SNOMEDCT_US:86095007 |
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Definition |
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
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label |
Metabolism, Inborn Errors |
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MCID |
MC00008121 |
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PMOID |
PMO:00036639 |
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prefixIRI |
pmo:PMO_00036639 |
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prefLabel |
Metabolism, Inborn Errors |
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Synonym |
Metabolism Inborn Error Metabolism, Inborn Errors [Disease/Finding] METAB INBORN ERR Congenital Metabolism Disorder INBORN ERR METAB Metabolism, Inborn errors of Inborn Metabolism Error Inborn Errors of Metabolism METAB ERR INBORN Metabolism Error, Inborn inborn metabolism disorder IBEM - Inborn error of metabol Errors Metabolism, Inborn Inborn Metabolism Errors inborn error of metabolism inborn errors of metabolism inborn error metabolism errors inborn metabolism Inborn error of metabolism NOS Inborn error of metabolism (disorder) Inborn errors of metabolism Inborn error of metabolism Inborn Errors Metabolism IBEM - Inborn error of metabolism IEM - Inborn error metabolism inborn errors metabolism Error, Inborn Metabolism inherited metabolic disorder Metabolism Inborn Errors Inborn error of metabolism, NOS Inborn Error of Metabolism Errors, Inborn Metabolism Inborn Errors Metabolisms Metabolic hereditary disorder (disorder) Metabolic hereditary disorder IEM - Inborn error of metabolism Metabolism Errors, Inborn Errors Metabolisms, Inborn Metabolisms, Inborn Errors Congenital Metabolic Disorder |
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Tree Number |
T9.11.1.12 T9.8.4.14 |
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subClassOf |