| Metadata | |
|---|---|
| ID | DOID:0070341 |
| Name | neonatal-onset type II 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. https://pubmed.ncbi.nlm.nih.gov/21424115/ |
| Xrefs | |
| Synonyms |
neonatal or infantile-onset citrin deficiency [EXACT] neonatal-onset type 2 citrullinemia [EXACT] |
| Parent Relationships |
is_a citrullinemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |