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Summary Literature (0)
DOID:0070340 - classic citrullinemia

Disease Ontology Definition:A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.

Synonyms:

Xenbase Genes : ass1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008988 - citrullinemia type I


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): citrullinemia (is_a)