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Echinobase
Summary Literature (0)
DOID:9280 - carbamoyl phosphate synthetase I deficiency disease

Disease Ontology Definition:An amino acid metabolic disorder that involves accumulation of ammonia in the blood.

Synonyms: CPS I deficiency,

Echinobase Genes : cps1


OMIM:
MIM:237300 - carbamoyl phosphate synthetase i deficiency, hyperammonemia due to

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)