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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:D-glyceric aciduria
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Accession:DOID:0111626 term browser browse the term
Definition:An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2. (DO)
Synonyms:exact_synonym: D-Glyceric Acidemia;   D-Glycericacidemia;   D-glycerate kinase deficiency;   deficiency of glycerate kinase;   glycerate kinase deficiency
 primary_id: MESH:C535767
 alt_id: OMIM:220120
 xref: GARD:234;   ICD10CM:E72.59;   NCI:C128804;   ORDO:128804;   ORDO:941
For additional species annotation, visit the Alliance of Genome Resources.



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D-glyceric aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: D-Glyceric aciduria OMIM
ClinVar
PMID:4434100 PMID:20949620 PMID:25741868 PMID:28492532 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          carbohydrate metabolic disorder 2561
            D-glyceric aciduria 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                D-glyceric aciduria 1
paths to the root