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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
MIM:237300 - carbamoyl phosphate synthetase i deficiency, hyperammonemia due to |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a)