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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:

In OMIM:
OMIM:215700 - CITRULLINEMIA, CLASSIC

In Mondo Disease Ontology:
MONDO:0008988 - citrullinemia type I

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ass1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): citrullinemia (is_a)