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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: DOID:9003448;   OMIM:220120
 xref: GARD:234;   ICD10CM:E72.59;   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 OMIM:220120
ClinVar Annotator: match by term: GLYCERATE KINASE DEFICIENCY
ClinVar Annotator: match by term: D-Glyceric aciduria
OMIM
ClinVar
PMID:4434100, PMID:20949620, PMID:25741868, PMID:28492532 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            D-glyceric aciduria 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                D-glyceric aciduria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.