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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:An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Synonyms:exact_synonym: AGL DEFICIENCY;   Amylo 1,6 Glucosidase Deficiency;   Cori Disease;   Cori's Disease;   Coris Disease;   Debrancher Deficiencies;   Debrancher Deficiency;   Forbes Disease;   GSD3;   Glycogen Debrancher Deficiencies;   Glycogen Debrancher Deficiency;   Glycogen Debranching Enzyme Deficiency;   Glycogen Storage Disease Type 3;   Glycogen Storage Disease, Type IIIb;   Glycogenosis 3;   Limit Dextrinoses;   amylo-1,6-glucosidase deficiencies;   deficiency of debranching enzyme;   deficiency of dextrin;   glycogen storage disease type III;   limit dextrinosis
 narrow_synonym: GLYCOGEN STORAGE DISEASE IIIb;   GLYCOGEN STORAGE DISEASE IIIc;   GLYCOGEN STORAGE DISEASE IIId;   GSD IIIb;   GSD IIIc;   GSD IIId
 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
ClinVar Annotator: match by OMIM:232400
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8702417, PMID:8755644, PMID:8990006, PMID:9332391, PMID:9412782, PMID:9490286, PMID:9584265, PMID:10472540, PMID:10655153, PMID:10801050, PMID:10925384, PMID:10982190, PMID:11378828, PMID:11757581, PMID:11924557, PMID:11949933, PMID:11977176, PMID:12442284, PMID:12955720, PMID:15542399, PMID:15833157, PMID:16189622, PMID:16705713, PMID:17047887, PMID:17895567, PMID:17915576, PMID:17994282, PMID:18617770, PMID:18785866, PMID:18924225, PMID:19299494, PMID:19754354, PMID:19834502, PMID:19951465, PMID:19951495, PMID:20071996, PMID:20490926, PMID:20526204, PMID:20648714, PMID:21228398, PMID:21321962, PMID:21691223, PMID:22089644, PMID:22899091, PMID:22995991, PMID:23062577, PMID:23207808, PMID:23430490, PMID:23430832, PMID:23430941, PMID:24033266, PMID:24257475, PMID:24495762, PMID:24700805, PMID:24824133, PMID:25388549, PMID:25431232, PMID:25451272, PMID:25451950, PMID:25602008, PMID:25741868, PMID:25827695, PMID:26885414, PMID:26913919, PMID:26984562, PMID:27088557, PMID:27106217, PMID:27460348, PMID:28039895, PMID:28074886, PMID:28492532, PMID:28888851, PMID:29374762, PMID:29614965, PMID:30916492, PMID:87556440, PMID:16705713, PMID:15118671 RGD:1601129, RGD:1331525 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
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 null
ClinVar Annotator: match by term: Glycogen storage disease IIIa
ClinVar PMID:8702417, PMID:8990006, PMID:9412782, PMID:9490286, PMID:10571954, PMID:10655153, PMID:10801050, PMID:10982190, PMID:11378828, PMID:11924557, PMID:12442284, PMID:15542399, PMID:16189622, PMID:16705713, PMID:17908927, PMID:18785866, PMID:18924225, PMID:19299494, PMID:19834502, PMID:19951465, PMID:20490926, PMID:20648714, PMID:21691223, PMID:22089644, PMID:22899091, PMID:23062577, PMID:23207808, PMID:23430490, PMID:24257475, PMID:25602008, PMID:25741868, PMID:25827695, PMID:26913919, PMID:26984562, PMID:27460348, PMID:28492532, PMID:29614965, PMID:31319225 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
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 PMID:8755644, PMID:9490286, PMID:10655153, PMID:10801050, PMID:10925384, PMID:11924557, PMID:20071996, PMID:20490926, PMID:20526204, PMID:20648714, PMID:22089644, PMID:23430490, PMID:25741868, PMID:25827695, PMID:26984562, PMID:28492532, PMID:8755644 RGD:1566516 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link

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 III 1
                  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 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 III 1
                    Glycogen Storage Disease IIIA 1
                    Glycogen Storage Disease IIIB 1
                    Glycogen Storage Disease IIIC 1
                    Glycogen Storage Disease IIID 0
paths to the root

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