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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
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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: EFO:0007193;   GARD:7269;   NCI:C84612


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Path 1
Term Annotations click to browse term
  disease 21089
    Nutritional and Metabolic Diseases 8105
      disease of metabolism 8105
        mitochondrial metabolism disease 813
          carbamoyl phosphate synthetase I deficiency disease 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            Metabolic Brain Diseases 1464
              Metabolic Brain Diseases, Inborn 1331
                urea cycle disorder 79
                  carbamoyl phosphate synthetase I deficiency disease 1
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