OBO ID: DOID:0070341
Term Name: neonatal-onset type II citrullinemia Search Ontology:
Synonyms:
  • neonatal intrahepatic cholestasis
  • neonatal-onset type 2 citrullinemia
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. https://www.omim.org/entry/605814
References:
Ontology: Human Disease   (DOID:0070341)
OTHER neonatal-onset type II citrullinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A13 Citrullinemia, type II, neonatal-onset 605814
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None