carbamoyl phosphate synthetase I deficiency disease

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

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,

Xenbase 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

: cps1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

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), autosomal recessive disease (is_a), urea cycle disorder (is_a)