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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

Xenbase Genes : ass1, slc25a13

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015991 - citrullinemia

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

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

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