classic citrullinemia

Term ID

DOID:0070340

Synonyms

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

References

• OMIM:215700

Ontology

Human Disease   ( DOID:0070340 )