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Metadata
ID DOID:0070340
Name classic citrullinemia
Definition A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
https://www.omim.org/entry/215700
Xrefs

MIM:215700

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is_a citrullinemia

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