Metadata | |
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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 | |
Parent Relationships |
is_a citrullinemia |