RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
NICCD; neonatal citrullinemia; neonatal citrullinemias; neonatal intrahepatic cholestasis caused by citrin deficiency; neonatal-onset citrullinemia type 2; neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia