DOID:0070341 - neonatal-onset type II citrullinemia
Disease Ontology Definition:A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene.
Synonyms: neonatal-onset type 2 citrullinemia
|OMIM:605814 - CITRULLINEMIA, TYPE II, NEONATAL-ONSET|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : slc25a13
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD