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Summary Literature (0)
DOID:9273 - citrullinemia


Disease Ontology Definition:An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.

Synonyms: ASS deficiency, classic citrullinemia, deficiency of citrulline-aspartate ligase

In OMIM:
OMIM:215700 - CITRULLINEMIA, CLASSIC
OMIM:603471 - CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
OMIM:605814 - CITRULLINEMIA, TYPE II, NEONATAL-ONSET

In Mondo Disease Ontology:
MONDO:0015991 - citrullinemia

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

Xenbase Genes : ass1, slc25a13

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