Term Name: | classic citrullinemia |
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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 ) |