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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:N-acetylglutamate synthase deficiency
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Accession:DOID:0112258 term browser browse the term
Definition:A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency;   N-Acetyl Glutamate Synthetase Deficiency;   N-Acetylglutamate Synthetase Deficiency;   NAG synthetase deficiency;   NAGS deficiency;   NAGSD;   hyperammonemia due to N-acetylglutamate synthase deficiency
 primary_id: MESH:C536109
 alt_id: DOID:9005654;   OMIM:237310
 xref: GARD:7158;   NCI:C129307;   ORDO:927
For additional species annotation, visit the Alliance of Genome Resources.


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N-acetylglutamate synthase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nags N-acetylglutamate synthase ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:12594532 PMID:12754705 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        Metabolic Brain Diseases 608
          Metabolic Brain Diseases, Inborn 538
            urea cycle disorder 47
              N-acetylglutamate synthase deficiency 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            Metabolic Brain Diseases 608
              Metabolic Brain Diseases, Inborn 538
                urea cycle disorder 47
                  N-acetylglutamate synthase deficiency 1
paths to the root