Term Name: | neonatal-onset type II citrullinemia |
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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 ) |