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Disease Ontology Browser
adult-onset type II citrullinemia (DOID:0070342)
Alliance: disease page
Synonyms: adolescent- or adult-onset citrin deficiency; citrin deficiency; CTLN2
Alt IDs: OMIM:603471, ORDO:247585
Definition: A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/18/2025
MGI 6.24 		The Jackson Laboratory