classic citrullinemia Disease Ontology Browser

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Disease Ontology Browser

classic citrullinemia (DOID:0070340)
Alliance: disease page
Alt IDs: OMIM:215700
Definition: A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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