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


Disease Ontology Definition:A urea cycle disorder that involves accumulation of ammonia in the blood.

Synonyms: CPS I deficiency

In OMIM:
OMIM:237300 - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

In Mondo Disease Ontology:
MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

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

Xenbase Genes : cps1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), urea cycle disorder (is_a)