FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term classic citrullinemia ID (Ontology) DOID:0070340 (Human Disease)
Definition A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
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 classic citrullinemia       1
 for disease ribbon | classic citrullinemia       1
 model of | classic citrullinemia       1
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  urea cycle disorder
   |__citrullinemia
       |__classic citrullinemia  1 rec.
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MIM:215700