Term Name: classic citrullinemia
Synonyms:
Definition: A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
Ontology: Human Disease [DOID:0070340]   ( DOID:0070340 )

Relationships
is a type of: citrullinemia