Term Name: neonatal-onset type II citrullinemia
Synonyms: neonatal intrahepatic cholestasis, neonatal-onset type 2 citrullinemia
Definition: 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.
Ontology: Human Disease [DOID:0070341]   ( DOID:0070341 )

Relationships
is a type of: autosomal recessive disease citrullinemia