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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 manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Synonyms:exact_synonym: 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;   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;   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.


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carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by OMIM:237300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPS I DEFICIENCY
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
OMIM
ClinVar
CTD
PMID:8486760, PMID:9686343, PMID:9711878, PMID:11474210, PMID:12655559, PMID:12955727, PMID:15050969, PMID:15164414, PMID:15617192, PMID:15876373, PMID:16737834, PMID:17310273, PMID:18414213, PMID:18666241, PMID:19167850, PMID:19309799, PMID:19793055, PMID:20578160, PMID:20800523, PMID:20855223, PMID:21120950, PMID:22173106, PMID:22575620, PMID:23649895, PMID:24813853, PMID:25741868, PMID:26059772, PMID:26440671, PMID:26592762, PMID:27150549, PMID:27290639, PMID:28007335, PMID:28444906, PMID:28492532, PMID:28526534, PMID:28658158, PMID:31507628, PMID:8486760 RGD:1600715 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          carbamoyl phosphate synthetase I deficiency disease 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                urea cycle disorder 44
                  carbamoyl phosphate synthetase I deficiency disease 1
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