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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:Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
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Accession:DOID:9005979 term browser browse the term
Definition:Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. (OMIM)
Synonyms:exact_synonym: GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA
 primary_id: OMIM:618412
 xref: EFO:0010257


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Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase ISO ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine OMIM
ClinVar		 PMID:25741868 NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        Developmental Disabilities 781
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              Neurodevelopmental Disorders 6850
                Developmental Disabilities 781
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
paths to the root