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Standards Ontologies Notations
carbamoyl phosphate synthetase I deficiency disease

Summary
Synonym
  • CPS I deficiency
Definition
A urea cycle disorder that involves accumulation of ammonia in the blood.
Super Class
autosomal recessive disease urea cycle disorder
Disease Ontology
DOID:9280
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
1373 CPS1 carbamoyl-phosphate synthase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
69719 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
227231 Cps1 carbamoyl-phosphate synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
497840 Cps1 carbamoyl-phosphate synthase 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024