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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:Glutamine Deficiency, Congenital
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Accession:DOID:9008125 term browser browse the term
Synonyms:exact_synonym: Glutamine synthase deficiency, congenital systemic;   Glutamine synthetase deficiency, congenital systemic
 primary_id: MESH:C536832;   RDO:0002530
 alt_id: OMIM:610015



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Glutamine Deficiency, Congenital term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic
OMIM
CTD
ClinVar
PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 More... NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            Glutamine Deficiency, Congenital 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              Glutamine Deficiency, Congenital 1
paths to the root