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

In OMIM:

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

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

In Mondo Disease Ontology:

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

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

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

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)