carbamoyl phosphate synthetase I deficiency disease

Summary

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

MIM:

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

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