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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:Glycogen Storage Disease XIII
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Accession:DOID:9005328 term browser browse the term
Synonyms:exact_synonym: Enolase 3 Deficiency;   Enolase-Beta Deficiency;   GSD XIII;   GSD13
 primary_id: MESH:C567861;   RDO:0015763
 alt_id: OMIM:612932
For additional species annotation, visit the Alliance of Genome Resources.


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Glycogen Storage Disease XIII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eno3 enolase 3 ISO ClinVar Annotator: match by OMIM:612932
ClinVar Annotator: match by term: GSD XIII
ClinVar Annotator: match by term: Enolase 3 deficiency
OMIM
ClinVar
PMID:11506403, PMID:25267339, PMID:25741868, PMID:28492532 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            glycogen metabolism disorder 79
              glycogen storage disease 79
                Glycogen Storage Disease XIII 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  Glycogen Storage Disease XIII 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.