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Standards Ontologies Notations
inherited metabolic disorder

Summary
Synonym
  • Inborn Errors of Metabolism
  • Metabolic hereditary disorder
  • inborn metabolism disorder
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.
Super Class
disease of metabolism genetic disease
External Links
Disease Ontology
DOID:655
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
WikiPathways (from TogoID)
Related Genes
Displaying entries 41 - 43 of 43 in total
Gene ID Gene Symbol Description Source
197322 ACSF3 acyl-CoA synthetase family member 3
285362 SUMF1 sulfatase modifying factor 1
440138 ALG11 ALG11 alpha-1,2-mannosyltransferase
Related Glycoprotein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024