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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 III
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Accession:DOID:2748 term browser browse the term
Definition:A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. (DO)
Synonyms:exact_synonym: AGL DEFICIENCY;   Amylo 1,6 Glucosidase Deficiency;   Cori Disease;   Cori's Disease;   Coris Disease;   Debrancher Deficiency;   Debrancher deficiencies;   Forbes Disease;   GSD3;   Glycogen Debrancher Deficiencies;   Glycogen Debrancher Deficiency;   Glycogen Debranching Enzyme Deficiency;   Glycogen Storage Disease Type 3;   Glycogenosis 3;   amylo-1,6-glucosidase deficiencies;   deficiency of debranching enzyme;   deficiency of dextrin;   glycogen storage disease type III;   limit dextrinoses;   limit dextrinosis
 primary_id: MESH:D006010
 alt_id: OMIM:232400
 xref: GARD:9442;   ICD10CM:E74.03;   NCI:C84736;   ORDO:366
For additional species annotation, visit the Alliance of Genome Resources.



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glycogen storage disease III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase susceptibility ISO DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Glycogen storage disease type III
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:8702417 PMID:8755644 PMID:8990006 PMID:9332391 PMID:9412782 More... RGD:1601129, RGD:1331525 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Glycogen storage disease type III ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
JBrowse link
Glycogen Storage Disease IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Glycogen storage disease IIIa ClinVar PMID:8702417 PMID:8990006 PMID:9412782 PMID:9490286 PMID:9536098 More... NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
Glycogen Storage Disease IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO DNA:mutations:exon:
ClinVar Annotator: match by term: Glycogen storage disease IIIb
ClinVar
RGD
PMID:8755644 PMID:9490286 PMID:9536098 PMID:10655153 PMID:10801050 More... RGD:1566516 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
Glycogen Storage Disease IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Glycogen storage disease IIIc ClinVar PMID:19299494 PMID:19834502 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                glycogen storage disease III 2
                  Glycogen Storage Disease IIIA 1
                  Glycogen Storage Disease IIIB 1
                  Glycogen Storage Disease IIIC 1
                  Glycogen Storage Disease IIID 0
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            carbohydrate metabolic disorder 2558
              glycogen metabolism disorder 248
                glycogen storage disease 248
                  glycogen storage disease III 2
                    Glycogen Storage Disease IIIA 1
                    Glycogen Storage Disease IIIB 1
                    Glycogen Storage Disease IIIC 1
                    Glycogen Storage Disease IIID 0
paths to the root