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Standards Ontologies Notations
adult-onset type II citrullinemia

Summary
Synonym
  • citrin deficiency
Definition
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Super Class
citrullinemia
Disease Ontology
DOID:0070342
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10165 SLC25A13 solute carrier family 25 member 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
50799 Slc25a13 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
43616 aralar1 aralar1
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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: December 9, 2024