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ornithine carbamoyltransferase deficiency

Summary
Synonym
  • deficiency of citrulline phosphorylase
  • ornithine transcarbamylase deficiency
Definition
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Super Class
urea cycle disorder
External Links
Disease Ontology
DOID:9271
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3486 IGFBP3 insulin like growth factor binding protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
16009 Igfbp3 insulin-like growth factor binding protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
24484 Igfbp3 insulin-like growth factor binding protein 3
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International Collaboration

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