Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:carbamoyl phosphate synthetase I deficiency disease
go back to main search page
Accession:DOID:9280 term browser browse the term
Definition:A urea cycle disorder that involves accumulation of ammonia in the blood. (DO)
Synonyms:exact_synonym: CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY;   CONGENITAL HYPERAMMONEMIA, TYPE I;   CPS 1 Deficiencies;   CPS 1 Deficiency;   CPS I Deficiencies;   CPS I deficiency;   Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease;   Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency);   Carbamoyl Phosphate Synthetase I Deficiency;   Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To;   Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency);   Carbamoylphosphate Synthetase 1 Deficiency Disease;   Carbamoylphosphate Synthetase I Deficiency Disease;   Carbamyl Phosphate Synthetase (CPS) Deficiency;   Carbamyl Phosphate Synthetase 1 Deficiency Disease;   Carbamyl Phosphate Synthetase Deficiency Disease;   Carbamyl Phosphate Synthetase I Deficiency Disease;   carbamoyl phosphate synthase 1 deficiency;   carbamoyl phosphate synthase 1 deficiency disease;   hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
 primary_id: MESH:D020165
 alt_id: OMIM:237300
 xref: GARD:7269;   NCI:C84612
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    Nutritional and Metabolic Diseases 6724
      disease of metabolism 6724
        mitochondrial metabolism disease 424
          carbamoyl phosphate synthetase I deficiency disease 1
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            Metabolic Brain Diseases 843
              Metabolic Brain Diseases, Inborn 743
                urea cycle disorder 57
                  carbamoyl phosphate synthetase I deficiency disease 1
paths to the root