DISEASES

Disease-gene associations mined from literature

Human genes for classic citrullinemia

Classic citrullinemia [DOID:0070340]

A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.

Synonyms:  classic citrullinemia,  DOID:0070340,  classic citrullinemias