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 characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)
Synonyms:
exact_synonym:
CDNI; NICCD; neonatal citrullinemia; neonatal citrullinemias; neonatal intrahepatic cholestasis caused by citrin deficiency; neonatal- or infantile-onset citrin deficiency; neonatal-onset citrullinemia type 2; neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: SLC25A13-related condition