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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 Deficiency;   Glycogen Debranching Enzyme Deficiency;   Glycogenosis 3;   amylo-1,6-glucosidase deficiencies;   deficiency of debranching enzyme;   deficiency of dextrin;   glycogen debrancher deficiencies;   glycogen storage disease 3;   glycogen storage disease type 3;   glycogen storage disease type III;   limit dextrinoses;   limit dextrinosis
 xref: GARD:9442;   ICD10CM:E74.03;   MESH:D006010;   MIM:232400;   MONDO:0009291;   NCI:C84736;   ORDO:366
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
glycogen storage disease III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Glycogen storage disease type III ClinVar PMID:25741868 PMID:28449981 PMID:28454995 PMID:31327635 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase susceptibility ISO
ISS		 DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Glycogen storage disease type III
OMIM:232400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
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 Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Cori disease ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 More... NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO ClinVar Annotator: match by term: Glycogen debrancher deficiency ClinVar PMID:12955720 PMID:20301788 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 and 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 and 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 and 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 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                glycogen storage disease III 5
                  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 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              glycogen metabolism disorder 302
                glycogen storage disease 302
                  glycogen storage disease III 5
                    Glycogen Storage Disease IIIA 1
                    Glycogen Storage Disease IIIB 1
                    Glycogen Storage Disease IIIC 1
                    Glycogen Storage Disease IIID 0
paths to the root