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classic citrullinemia
Summary
- Definition
- A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
- Super Class
- citrullinemia
External Links
- Disease Ontology
- DOID:0070340
- Mondo Disease Ontology
- OMIM
