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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
OMIM:237300 - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

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)