citrullinemia

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Echinobase

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, deficiency of citrulline-aspartate ligase

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ass1

MIM:

MIM:215700 - citrullinemia, classic
MIM:603471 - citrullinemia, type ii, adult-onset; ctln2
MIM:605814 - citrullinemia, type ii, neonatal-onset

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)