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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 the GLYCTK gene 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


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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 | ClinVar Annotator: match by term: Deficiency of glycerate kinase
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4434100 PMID:20949620 PMID:25741868 PMID:28492532 PMID:29695758 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          carbohydrate metabolic disorder 3267
            D-glyceric aciduria 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                D-glyceric aciduria 1
paths to the root