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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 II
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Accession:DOID:2752 term browser browse the term
Definition:A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)
Synonyms:exact_synonym: AMD;   Acid Maltase Deficiency Disease;   Adult Glycogen Storage Disease Type II;   Alpha 1,4 Glucosidase Deficiency;   Alpha-Glucosidase Deficiency;   Deficiency of Alpha Glucosidase;   GAA Deficiency;   GAA deficiencies;   GSD II;   GSD2;   Generalized Glycogenosis;   Glycogen Storage Disease II, Adult Form;   Glycogen storage disease 2;   Glycogenosis 2;   Glycogenosis Type II;   Pompe disease;   Pompe's disease;   Pompes disease;   acid alpha-glucosidase deficiencies;   acid alpha-glucosidase deficiency;   acid maltase deficiencies;   acid maltase deficiency;   alpha-1,4-glucosidase deficiencies;   alpha-glucosidase deficiencies;   deficiency of glucoamylase;   deficiency of maltase;   generalized glycogenoses;   glycogen storage disease II, infantile form;   glycogen storage disease type 2;   glycogen storage disease type II;   glycogenosis type 2;   infantile glycogen storage disease type II;   juvenile glycogen storage disease type II;   lysosomal alpha-1,4-glucosidase deficiency;   lysosomal alpha-1,4-glucosidase deficiency disease
 primary_id: MESH:D006009
 alt_id: OMIA:000419;   OMIM:232300
 xref: GARD:5714;   ICD10CM:E74.02;   NCI:C84734;   ORDO:365
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:28492532 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057 		JBrowse link
G Gaa alpha glucosidase ISO
ISS		 ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:232300
ClinVar Annotator: match by term: ACID ALPHA-GLUCOSIDASE DEFICIENCY | ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II		 OMIM
ClinVar
CTD
MouseDO		 PMID:1109266 PMID:1652892 PMID:1856189 PMID:1862843 PMID:1895140 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:15016963 PMID:21266528 PMID:23334666 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:2111708 PMID:2203258 PMID:2510307 PMID:7668832 PMID:7717400 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          Metabolic Brain Diseases, Inborn 1354
            Lysosomal Storage Diseases, Nervous System 177
              glycogen storage disease II 5
                Cardiac Form of Generalized Glycogenosis 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Lysosomal Storage Diseases, Nervous System 177
                  glycogen storage disease II 5
                    Cardiac Form of Generalized Glycogenosis 2
paths to the root